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Hamerton Robertsonian Translocation : Evidence on Segregation From Family Studies

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Resolving Paradoxes of Robertsonian Translocations

Submitted: March 22nd, 2018 Reviewed: June 1st, 2018 Published: March 15th, 2019

DOI: 10.5772/intechopen.79237

From the Edited Book

Cytogenetics

Edited by Marcelo Larramendy and Sonia Soloneski

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Abstract

Since Robertsonian translocations (ROB) are essential in the etiology of built malformations and reproductive disorders, it is natural to presume that they represent a thoroughly studied bailiwick. Withal, on closer inspection, in that location are poorly studied areas inside this field. The aim of this report is to nowadays results of a comprehensive analysis of bachelor data nerveless by researchers worldwide that allows a new look at the problems mentioned above. In that location were determined rates and spectrums of ROB in the general population and in patients with reproductive disorders. The comprehension of a female-based sexual practice ratio (male person-to-female ratio) among newborn carriers of counterbalanced nonhomologous ROB in the general population leads to a conclusion on the mechanism of sex activity-specific correction of translocation trisomy, which might explicate both inexplicably low occurrence of rob-associated uniparental disomy and phenomenon of "not-Mendelian-inheritance." The data obtained indicate that female person ROB carriers are at a much higher risk of uniparental disomy compared to male ROB carriers. In the majority of asymptomatic male person carriers of homologous translocation/isochromosome (HT), spermatogenesis is not impaired. An analysis of sex activity ratio among ill-divers HT carriers showed a difference between patients with Prader-Willi syndrome and Angelman syndrome, indicating different mechanisms of HT formation.

Keywords

  • Robertsonian translocations
  • isochromosomes
  • sex ratio
  • uniparental disomy
  • non-Mendelian inheritance
  • reproductive disorders
  • Prader-Willi syndrome
  • Angelman syndrome

1. Introduction

Robertsonian translocations (ROBs) are common structural chromosome rearrangement in humans. Since they are fundamental in the etiology of congenital malformations and reproductive disorders, information technology is natural to presume that they represent a thoroughly studied subject area. However, on closer inspection, in that location are poorly studied areas within this field. Surprisingly, exact rates of ROB carriers were determined neither among consecutive newborns nor among patients with reproductive disorders. The literature reiterates the information on tenfold, or even more than tenfold, increase in the rate of ROB carriers amid patients with reproductive disorders compared to the full general population. In addition, the quoted rates among newborns vary depending on the source that the authors cite [1, 2, iii]. Another omission in the area under consideration is the lack of systematic comparative analysis of the ROB spectrum in various carrier groups. The miracle of exceptional rarity of some nonhomologous rearrangements was not given due attention. There are some enigmatic problems in the field not yet resolved. Ane of them, unusual segregation of maternally transmitted translocations, has been discussed for the last five decades [4, 5, 6]. Some other, established more recently, is the unexpectedly depression incidence of ROB-associated uniparental disomy amongst carriers of balanced rearrangement [seven]. The epidemiology of Robertsonian homologous translocations (HTs)/isochromosomes, due to their rarity, has largely not been investigated. The aim of this report is to present results of a comprehensive analysis of bachelor data collected past researchers worldwide that allows a new look at the bug mentioned above.

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2. Materials and methods

Report groups: newborns, prenatal diagnoses for indications other than familial rearrangement (the chief indication for prenatal testing was advanced maternal age, and the transmitting parent was defined following detection of a rearrangement in the fetus), spontaneous abortuses with regular and translocation trisomy for chromosome xiii and chromosome xiv, carriers of rob (13;fourteen)-associated maternal uniparental disomy for chromosome 14, couples with reproductive disorders, patients with male infertility, and ill-defined carriers of homologous translocation/isochromosome (listed in Additional files S1–S8: Tables S1–S10; Additional file 11: Supplemental References, available either on asking or from https://world wide web.researchgate.net/contour/Natalia_Kovaleva/contributions).Methods:meta-analysis of information retrieved from published studies. But reports on ROB carriers of known sexual activity were selected for the study. The data were analyzed using two packages of statistical programs: 1 of which utilized procedures of traditional approach and the other i utilized procedures of a modern Bayes approach. Guided past modern recommendations for the statistical analysis, we did not limit ourselves to the zero hypothesis significance testing based on the p-values but also calculated the 95% confidence intervals (CIs) for proportions and their ratios. StatXact, the world'due south most expansive toolkit for exact nonparametric inference StatXact-8 (Cytel Co., U.s.a.), was used. To construct CIs for the proportion ratios, the method of variance estimates recovery (MOVER) algorithm implemented in the program MOVER-R.xls (http://medicine.cf.ac.united kingdom/primary-care-public-health/resources/) was used.

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3. Results and discussion

3.ane. Conclusion of verbal rates and spectrums of ROB in the general population and in patients with reproductive disorders

The rates, spectrum, and parental origin of major nonmosaic counterbalanced rearrangements in the general population are presented in the Additional files, Tables S1–S4. Statistical assay showed distributions of nonhomologous ROBs from all studied groups to be homogenous in all combinations; therefore, both command groups were aggregated for further analysis. In the aggregated control (Table ane), the results seem to be in accordance with current views on the spectrum of individual ROBs, with the overwhelming majority of rob(13;xiv) 71%, followed past rob(14;21) 12%; the remaining translocations are rare or exceptionally rare; rob(15;21) and rob(13;21) were detected once each (0.4%). The total frequency of all translocations, calculated for newborns, is ane.06‰ with 95% CI from 0.8 to 1.three‰.

Studied group Gender Number of tested patients Number of ROB carriers Nonhomologous rearrangements Homologous rearrangements
thirteen;14 13;fifteen 13;21 13;22 14;15 fourteen;21 xiv;22 15;21 15;22 21;22 13;13 14;14 15;xv 21;21 22;22
Newborns (Table S1) ♂♂ 33,371 24 (25)a 18 0 0 0 two 1 1 0 1 1 0 0 0 0 0
♀♀ 31,534 38 (39)b 33 0 0 i 0 4 0 0 0 0 0 0 0 0 0
ns 28,811 34c 26 0 0 0 0 6 0 1 ane 0 0 0 0 0 0
Total 93,716 96 (98)a,b 77 0 0 1 2 11 i 1 2 1 0 0 0 0 0
Prenatal diagnoses (Table S3) ♂♂ 56 35 4 0 one 0 12 3 0 1 0 0 0 0 0 0
♀♀ 86 55 5 ane 3 4 6 5 0 2 three 1 0 1 0 0
Total 142 (143)c 90 10c 1 4 3 xviii 8 0 iii 3 1 0 one 0 0
Full 238 (241) 164 9 1 5 5 28 8 one five four 1 0 1 0 0

Table ane.

Spectrum of Robertsonian translocations in conseсutive newborns and in prenatal diagnoses for indications other than familial translocation (updated from [8]).

Including carrier of 45,XY,tdic(D;D).

Including carrier of 45,Xx,t(D;D).

In a office of this study (Nielsen, Wohlert, 1991), gender was reported (Nielsen, Sillesen, 1975); see Additional file 11: Supplemental references.


Data on patients with reproductive disorders are presented in Additional files S1–S3: Tables S1–S3. The distribution of translocations in couples with reproductive disorders (Table 2) is generally like to that observed in the aggregated command grouping. However, the proportion of rob(13;fourteen) is much less in couples with habitual abortion (139/245 = 57%, with 95% CI of 51–63%), while the proportion of homologous translocations is high (24/245 = 10%, with CI of 7–14%). The overall rate of ROB carriers amidst couples with infertility is three.6‰ (95% CI of ii.8–4.ane‰), and 4.8‰ (95% CI of 4.2–5.five‰) amongst couples with multiple miscarriages. These values, as can be seen, practise non exceed x times the value in general population. A high incidence of ROB was institute among patients with male infertility, vii.one‰ (95% CI of half-dozen.2–8.two‰). Among couples with miscarriages, there is a difference between males and females by proportions of carriers of rob(14;fifteen) (one and 6%, correspondingly) and carriers of rob(14;21) (5 and 14%, correspondingly). There is a divergence betwixt couples with habitual abortion and couples with infertility in involving of chromosome 22 into nonhomologous rearrangements (32/245 = 14% with 95% CI of ix–18% vs. 4/110 = 4.2% with 95% CI of one.5–9%), as well as with patients with male infertility (2/201 = 1.3% with CI 0.3–3.5%). In addition, among HT patients with habitual miscarriages, virtually are carriers of translocations/isochromosomes 22 (7 of 24).

Patients Number of tested patients Number of detected carriers Nonhomologous rearrangements Homologous rearrangements
13;14 13;15 13;21 13;22 14;fifteen 14;21 14;22 xv;21 xv;22 21;22 thirteen;13 fourteen;14 15;fifteen 21;21 22;22
Couples with infertility (Table S5) ♂♂ xv,432 91 68 5 0 0 5 xi 1 0 0 1 0 0 0 0 0
♀♀ 15,468 twenty 12 ii 0 1 i ii 0 0 1 0 1 0 0 0 0
Total thirty,900 111 lxxx 6 0 1 6 13 1 0 1 1 1 0 0 0 0
Couples with habitual abortion (Tabular array S6) ♂♂ 25,577 86 (87)a 56 3 0 2c 1 four 4 ane v 1 2 1 ii 1 3
♀♀ 25,676 159 (160)b 83 ii ane 4d 9d 22 six 7 five 5 five 4 ane 1 4
Total 51,253 245 (248)east 139 1 6 10 26 10 8 10 6 7 5 3 2 vii
Patients with male infertility (Table S7) ♂♂ 28,112 201 140f 11 1 0 nine 27 1 v 0 i 2g two i 0 1

Tabular array 2.

Spectrum of Robertsonian translocations in patients with reproductive disorders (updated from [eight]).

Including 45,XY,t(D;Chiliad) carrier.

Including 45,XX,t(D;D) carrier.

Including carrier of 45,XY,t(13;22), inv.(6) (Valkova, 1986).

Including a carrier of 44,XX,t(13;22),t(14;xv) (Sugiura-Ogasawara et al., 2008).

Including carrier of t(xiii;14) of unknown gender.

Including two patients with 45,XY,inv.(five) (Dul et al., 2012; Tuerlings et al., 1998).

Carrier of 45,XY,der(13;xiii)/46,XY,der(thirteen;13),der(13;thirteen) (Tuerlings et al., 1998); see Additional file S11: Supplemental references.


Of notation is the extremely low frequency of rob (13;21); no carriers of this translocation were constitute in the newborn population, while among patients with habitual miscarriage, with a fourfold concentration of translocation carriers, only one carrier of rob (thirteen;21) was found. This suggests one possible machinery, a negative selection against certain types of translocations.

This hypothesis is consistent with the data of British authors [9] who reported the discovery of iii constitutional rob (fifteen;21) carriers amidst 95 children with acute lymphoblastic leukemia. It was proposed that the mechanism of triggering the neoplastic process is chromotrypsis. The authors ended that in carriers of this rearrangement, the risk of the illness is 2700 times higher than in the full general population. Interestingly, their supposition of a population frequency of rob (15;21) of about 1 per 100,000 newborns is very shut to the existent value presented in this newspaper.

Indeed, rob (fifteen;21) appeared to be a very rare rearrangement, which is clearly not supported by natural option: in the normal population, just one carrier of a rob (15;21) was detected (sexual practice non specified), while amid about a twofold smaller group of patients with habitual miscarriage, 8 carriers of this translocation were diagnosed. Five carriers of rob (15;21) were identified amongst patients with male gene of infertility. These observations are of significance for medical genetic counseling of the carriers. Firstly, it is necessary to discover out whether the risk of leukemia varies amidst the carriers depending on whether this translocation is inherited or occurred de novo. Currently, such information are non bachelor.

Based on this information review, it is evident that it is necessary to proceed accumulating survey data of couples with reproductive disorders to found the existence or absence of differences in the range of ROB both between the patient groups and the population.

3.2. The phenomenon of female predominance amid carriers of ROB in the general population has promoted comprehension of both low incidence of ROB-associated uniparental disomy and transmission ratio distortion in offspring of female ROB carriers

3.2.i. The parental origin of ROB and the sexual practice ratio among carriers in the full general population and in prenatal diagnosis

The sex ratios (SR) and parental origin of major nonmosaic counterbalanced rearrangements in the general population are presented in the Additional files, Tables S2 and S4. The observed sexual practice ratio was 1.06 (95% CI 1.04–one.07) which correlates with population ratios worldwide (Table S2).

The majority of both RECs and ROBs detected among conseсutive newborns (just non inversions) occurred de novo. Interestingly, the proportions of mutant REC and mutant ROB in newborns were like (9/fifty = 18% and seven/52 = 13%, correspondingly), despite unlike parental origins: RECs ascend predominantly in spermatogenesis [10, 11], while ROBs arise predominantly in oogenesis [12, 13].

Some female prevalence amidst transmitting parents was in concordance with reported information on REC carriers (23mat/18pat), but non on carriers of ROB (24mat/21pat), since according to common conception, a twofold female predominance should exist expected in this group due to reduced male fertility of ROB heterozygotes [14].

Yet, the most intriguing finding is the SR variability in newborns depending on the type of rearrangement (Table 3); there were equal numbers of REC carriers of both sexes (31 M/31F; for rates of 0.93 and 0.98‰, correspondingly) and a notable female predominance among carriers of ROB (27 M/41F, for rates of 0.77 and 1.24‰, correspondingly). The difference between the SR among carriers of ROB (0.61 with 95% CI of 0.27–1.00) and the SR among tested newborns (ane.06 with CI of i.04-ane.07) was statistically significant (Bayes arroyo).

Studied group Reciprocal translocations Robertsonian translocations Inversions
Maternal origin Paternal origin Maternal origin Paternal origin Maternal origin Paternal origin
♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀
Newborns (Table S4) fifteen 8 8 9 11 13 7 14 2 six 0 3
23 M/17F, SR = 1.35 18 Chiliad/27F, SR = 0.67 2 Yard/9F
Prenatal diagnoses (Table S5) 51 43 52 36 26 43 23 35 45 49 54 47
103 M/79F, SR = 1.3 49 Thousand/78F, SR = 0.63 99 M/96F, SR = 0.96
Full 126 Thousand/96F, SR = 1.31 67 M/104F, SR = 0.64a 101 1000/105F, SR = 0.96
Sex ratio with 95% CI 0.92 ane.221.62 0.l0.680.93b 0.77one.031.39

Table 3.

Sex ratio amid carriers of balanced rearrangements according to parental origin (updated from [nineteen]).

Difference with the expected ratio of 1:1 is statistically meaning at р  = 0.0033 (binomial examination).

Departure with the expected population ratio of 1.06 is statistically significant (Bayes approach).


Analysis of the SR according to the parental origin of rearrangements showed female preponderance amid ROB carriers in either maternal or paternal origin or de novo origin: 11 Thousand/13F, vii Chiliad/14F, and 2 M/5F, correspondingly. Among carriers identified prenatally for indications other than familial rearrangement, female person-based SR was found for both maternally and paternally transmitted rearrangements: 26 M/43F and 23 M/35F, correspondingly.

Collectively, among carriers of ROB with known parental origin, there were 67 males and 105 females (SR = 0.64), a difference from the expected ratio of 1:ane was determined to exist significant statistically by both traditional statistics (p = 0.0033, binomial test) and past a Bayes approach (Table three). Among offspring of REC carriers and carriers of inversion, SR was not different statistically from the expected ratio of i:i. (126 M/96F, SR = 1.31 and 102 M/105F, SR = 0.96, correspondingly).

Among ROBs identified in newborns, the vast majority of the cases plant translocations between chromosomes 13 and fourteen (l of 61). It is these rearrangements that determine unusual SR amid ROB carriers: out of l carriers of der(13;xiv), 18 were males and 32 were females (SR = 0.56). A like ratio was observed among fetuses with der(13;14): 32 male carriers and 53 female carriers (SR = 0.threescore). In total, SR amongst carriers of der(thirteen;14) was 0.59 (50 M/85F), which is statistically significant from the expected 1:ane ratio both when using standard statistics (р = 0.001) and when using Bayes approach.

Thus, there is currently unexplained mechanism for maintaining female-biased sex ratio in carriers of ROB. A biased SR amid offspring of male person ROB carriers would have been explained by some meiotic procedure providing preferable production of X-bearing gametes with ROB. However, for female carriers, such a mechanism cannot exist considered, since women produce Ten-begetting gametes only, and the offspring's gender is adamant by male gametes. For an caption of the discussed phenomenon, the author suggests application of the concept of sexual activity-specific correction of initial trisomy more often than not in female embryos [fifteen, 16]. In relation to ROBs, that ways the loss of the odd chromosome is not involved to the translocation. If it is truthful, amongst carriers of balanced rearrangements, female-biased SR is expected, along with male preponderance among carriers of unbalanced translocations.

3.2.2. Sex ratio among abortuses with unbalanced translocation 13 and among abortuses with unbalanced translocation xiv

Carriers of an unbalanced 46,+xiii,der(13;14) rearrangement are rarely plant among liveborns. In the population of 64,905 newborns, translocation T13 was detected in four instances; amongst them merely 1 was identified as der(13;14). Similarly, they are rarely establish at amniocentesis in the second trimester: two instances just amid 52,965 and 31,194 tested fetuses [17, 18]. Carriers of the other unbalanced derivative of rob(xiii;xiv), i.east., translocation trisomy for chromosome 14, 46,+xiv,der(13;14), are unlikely to survive to a long gestation age. Therefore, aiming to obtain data on SR among carriers of T13 and/or T14, the author analyzed studies on chromosomal constitution in spontaneous abortions.

Table 4 summarizes the data from 26 surveys that detected cases of regular and/or translocation trisomy (T) of either chromosome 13 or 14 (see Boosted file: Tabular array S8). Analysis showed that among abortuses with regular T13, there were some predominance of male carriers, 75 Chiliad/63F (SR = 1.2), non statistically different from the population ratio of 1.06. In dissimilarity, an unusual increase in the proportion of male carriers was observed among carriers of translocation T13 (17 M/3F) which might exist interpreted as evidence supporting female-specific correction of translocation trisomy. Increased SR among carriers of translocation T14 in comparison with carriers of regular T14 was observed as well, with 15 1000/9F (SR = 1.7) vs. 25 Grand/39F (SR = 0.half dozen), correspondingly. It is quite possible that elimination of male embryos trisomic for chromosome fourteen occurred at before stages of embryo evolution.

Referencesa Regular trisomy Translocation trisomy
Chromosome 13 Chromosome xiv 46,+13,der(thirteen;fourteen) 46,+fourteen,der(thirteen;14)
♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀
Additional file: Table S8 73 63 27 39 17 3 fifteen 9
Sex ratio with 95% CIs 0.viii 1.ii i.vi 0.43 0.seven 1.13 1.eight 4.8b17.4 0.seven i.7 3.7

Tabular array 4.

Sex ratio in spontaneous abortions with nonmosaic regular and translocation trisomy 13 or fourteen (updated from [xix]).

Only studies where trisomy for either chromosome 13 or chromosome 14 were detected.

Different statistically from the expected ratio of one.06, P (Bayes approach).


3.ii.3. Sexual practice ratio among carriers of balanced translocation 45,der(xiii;14), upd(14) resulted from correction of initial translocation trisomy 14

To evaluate whether a correction of translocation T14 occurs predominantly in female person carriers, ane may study the SR among individuals with uniparental disomy 14, upd(14). Different upd(13), upd(xiv) carriers demonstrate clinical manifestations depending on the sexual practice of the transmitting parent and accept therefore undergone cytogenetic and molecular testing. Analysis of published cases with reported sex of the carriers of upd(fourteen) showed that of 16 patients with 45,der(xiii;xiv),upd(fourteen), 12 were females, including 8 carriers of upd(14)mat [twenty, 21, 22, 23, 24, 25, 26, 27] and 4 carriers of upd(fourteen)pat [28, 29, 30, 31]; the remaining iv male person patients had upd(14)mat [32, 33, 34, 35].

Information technology was logical to assume that in this group, incomplete correction of initial translocation trisomy 14 may take identify as the consequence of postzygotic events, i.e., mosaicism can be found. Moreover, carriers of mosaicism were expected to be females. Accordingly, mosaicism 45,Xx,der(13;14)/46,XX,der(xiii;fourteen),+14 was detected in two female patients [20, 21].

Among carriers of other translocations with upd(xiv)mat, there was besides a female predominance, with iv females out of five patients [25, 36, 37, 38, 39]. This observation supports the suggestion that the trisomy correction phenomenon might not be restricted to unbalanced translocation (13;14). The data obtained is of clinical significance, indicating that female ROB carriers are at a much higher take a chance of uniparental disomy than male ROB carriers.

three.2.4. Preferential loss of a maternal extra chromosome in female embryos as a correction mechanism leading to biparental disomy

The information obtained, while presenting testify for sex-specific correction of trisomy as a reason for female person predominance among carriers of counterbalanced ROB, are in credible contradiction with the data on depression incidence of uniparental disomy carriers among both prenatally tested fetuses and abortuses with familial translocations. According to collective data, the incidence of translocation trisomy correction causing uniparental disomy does not exceed one% [7]. It is understandable that so rare an event cannot cause the observed bias in the sex ratio. In plough, the depression incidence of uniparental disomy due to trisomy correction is in contradiction with the data on a very loftier incidence of cocky-correction constitute in preimplantation embryos [40, 41].

An assumption of a special correction mechanism leading to biparental disomy might explain this contradiction. Such a mechanism, a preferential loss of maternal chromosome (and, hence, reconstitution of biparental disomy) in female person embryos, was suggested equally an explanation of the twofold male predominance amongst patients with Prader-Willi syndrome due to maternal uniparental disomy [fifteen] (for details, see Section four.3.2).

Preferential loss of maternal actress chromosome in carriers of inherited unbalanced translocation may be explained "topographically": in the human zygote, maternal and paternal pronuclei are separated, and this condition is preserved during some mitotic divisions. In the case of translocation trisomy (which mostly have maternal origin), a competition for spindle attachment occurs. The vast majority of human ROBs are dicentric [12]. The dicentric structure allows for more spindle attachment sites and consequently for a "stronger" centromere [14], which provides preferential loss of maternal extra chromosome. At later postzygotic stages, while trisomy correction results in mosaicism for counterbalanced translocation, preferable loss of maternal chromosome should non occur.

Sex-specific correction of transmitted translocation trisomy might explain either partly or entirely the phenomenon discussed since the 1960s, namely, transmission ratio distortion in offspring of female carriers of ROB [4, v, vi]. Unfortunately, the precise mechanism of selective trisomy correction in female embryos is undefined.

3.3. Homologous Robertsonian translocations/isochromosomes: uneven interest of acrocentric chromosomes, varying sex ratio, and no association with infertility

iii.three.one. Rates and spectrum of HT in asymptomatic carriers

When groups of couples with reproductive disorders are compared (Tabular array ii), tenfold departure is evident between them by both an incidence of HT carriers (0.03‰ in couples with infertility and 0.four% in couples with habitual ballgame) and a proportion among all detected ROB s : 0.9% (ane/111) with 95% CI of 0.2–4.9% vs. ten% (24/245) with CI of 7–xiv%, the difference is significant at p  < 0.0013. And since the only carrier of HT in the group with infertility was a woman, one tin assume that her "infertility" was due to early undiagnosed pregnancy losses.

In patients with male person factor of infertility, it was originally intended to combine them with males from couples with infertility, especially since these groups did non statistically significantly differ either in the frequency of the detected ROB carriers (0.36 and 0.21‰, respectively) or in the spectrum of translocations. Withal, information technology was taken into account that in the surveyed couples, near half of males were partners of females with a female factor, and therefore their assemblage into one group is unnecessary. Withal, despite the fact that in this grouping, the bulk of the patients had a proven male infertility factor, proportion of HT carriers was only 3% (6/201 = 3.3 with 95% CI of one.4–6.four%), which is non statistically dissimilar from that in the males from couples with infertility (0/91 = 0.0% with CI of 0.0–4%) at p = 0.18. Of note is that one of the six patients presented mosaicism for counterbalanced/unbalanced HT [42].

70-1 single cases of HT carriers, including 48 females, were identified from the literature (Additional file S7). Almost all female carriers, except for two, were tested cytogenetically for multiple miscarriage and/or abnormal offspring. Of 23 male carriers, simply ii were tested for infertility, 1 of whom had mosaicism for an unbalanced rearrangement.

Tabular array v presents the data collation from unmarried reports, systematic surveys of couples with reproductive disorders, and also the publication of the authors who summarized the results of the diagnostic laboratory without detailing the indications for the testing. The most frequent were the HT of chromosome 13 and chromosome 22. A somewhat smaller number of asymptomatic carriers of HT of chromosomes 14 and fifteen might be explained by the presence of imprinted genes on these chromosomes, a proportion of both HT14 and HT15 carriers accept clinical manifestations depending on which of the parents the HT is inherited from (see Department iii.four).

Translocations Couple with reproductive disorders (Tables S5, S6) Single cases tested for diverse reasons (Table S9) Consecutive patients from a genetic unit [44] Full Sexual activity ratio
♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀ ♂♂ ♀♀
13;thirteen ii six 1 xv 2 3 v 24 0.21
14;14 1 4 5 half dozen ane 3 vii 13 0.54
fifteen;15 2 one 3 nine 0 2 5 12 0.42
21;21 one one 4 8 0 vi five 15 0.33
22;22 three four 10 8 two 1 15 13 1.15

Table five.

Spectrum of homologous translocations and sex ratio amid carriers, updated from [43].

The sex ratio in carriers of HT of chromosomes 13–15 and 21 is female biased, varying from 0.21 to 0.54, with the overall figure of 0.34 (22 K/64F) with 95% CI of 0.21–0.56. The predominance of female person individuals among carriers of chromosome rearrangements of this type is explained by the sex-specific instability of pericentromeric regions [xv, 69]. In dissimilarity, sex ratio among carriers of HT22 is non female biased (15 males/13 females, with 95% CI of 0.56–2.45), which might betoken some different "circumstances" of the formation of HT22 and the other acrocentric chromosomes. It is known that HT may have either a meiotic or mitotic origin and may be mono- or dicentric and biparental or uniparental [45]. All the information that the authors reported on the origin of HT is included in Additional file: Tabular array S9. Nonetheless, its scarcity does not permit drawing whatsoever conclusions as to the possible differences in the mechanisms of the formation of certain HT.

iii.iii.2. Bug of reproduction in carriers of HT

The data of the previous study suggested that homologous translocations do not contribute to a disturbance of spermatogenesis [8]. The present study showed that in patients with a male factor of infertility, the percentage of HT is 3% of the identified ROBs, in contrast to ten.v% in partners of women with miscarriage (although in the latter group about half of the individuals are partners of women with a female person cistron for infertility). It was noted that of the 22 male person HT carriers (Additional file: Tabular array S9), only 2 have been evaluated for infertility, 1 of them having a prison cell line with an unbalanced HT [3]. In the analysis of a testicular biopsy of another carrier, the authors found no reason to link the presence of HT with the impairment of his spermatogenesis [46].

Thus, in the overwhelming majority of cases, male HT carriers produce gametes capable of fertilization. The absenteeism of spermatogenesis disorders, typical to nonhomologous ROB carriers, is most likely due to the ability of chromosome arms of HT to conjugate, as previously reported [47]. The authors, examining a man whose wives had habitual miscarriages, found completely normal spermogram parameters and testicular histology, wherein conjugation between the long arms of the isochromosome 14 took place in such a way that the chromosome did not differ from the usual bivalent. It is obvious that such a configuration is fraught with the possibility for formation of a ring chromosome. Indeed, in the offspring of two carriers of HT, there were children with band chromosomes, most likely formed from parental HT [48, 49]. In that location are multiple reports in the literature on patients with ring chromosomes accompanying homologous translocations just of postzygotic origin [50, 51, 52, 53]. Stetten et al. [53] suggested that the presence of HT is a necessary precursor to the germination of ring chromosomes.

Despite the fact that carriers of nonmosaic HT produce merely abnormal gametes, at that place are cases of the birth of healthy children with the same rearrangement [54, 55, 56, 57, 58, 59]. These rare cases can be the outcome of one of ii mechanisms: the syngamy of a gamete carrying HT with a gamete nullisomic for the same chromosome or correction of a trisomic zygote by losing a costless extra chromosome. It is curious that out of seven of these cases, in four of them, HT22 was transmitted. Studies of the inheritance events of counterbalanced HTs provided initial show that chromosomes 13, 21, and 22 did not conduct imprinted gene.

Several cases of the birth of healthy children with normal chromosomes to apparently nonmosaic HT carriers were reported [threescore, 61, 62, 63, 64]. The birth of chromosomally normal children indicates the presence of a normal line in the gonads of the parents with HT. In addition, i tin can presume a rare event—desultory dissociation of centromere. This phenomenon was shown both for ROB [65, 66] and for nonacrocentric chromosomes [67, 68]. Another possibility was discussed as well, gonadal mosaicism in unbalanced HT (translocation trisomy), since gamete precursor cells with such a fix of chromosomes are expected to produce 50% of daughter cells with normal karyotype [69].

It would seem that the feasibility of this possibility with respect to male patients is highly doubtful, since the presence of an additional chromosome induces spermatogenesis disorders. For example, it is well known that women with nonmosaic trisomy of chromosome 21 (Down syndrome) are fertile, while men are mostly infertile, due to dumb spermatogenesis [70]. Information technology is possible to presume that it is the presence of a cell line with unbalanced HT in the gonads as a issue of incomplete correction of the original translocation trisomy that causes spermatogenesis disorders in carriers of apparently counterbalanced HT.

Currently, infertility due to chromosomal abnormalities, with the respective pathologies of spermatogenesis, is overcome by reproductive technologies, and, paradoxically, it is possible that it is in male person HT carriers with infertility that in that location is a chance to take a healthy offspring. For example, encouraging results were obtained using reproductive technologies for the production of healthy children from male carriers of trisomy 21 [71, 72].

In general, the reproductive prognosis for carriers of HT is pessimistic. But, given the nonzero adventure of having gonadal mosaicism in them, we tin recommend testing, the algorithm of which was published [69, 73]. In add-on, some other possibility of having a healthy child with the aforementioned rearrangement was discussed, that is, gamete donation from a carrier of the same counterbalanced rearrangement, which does non acquit imprinted genes [73].

3.four. Sex ratio in ill-defined carriers of homologous translocations/isochromosomes

A scrupulous search in available literature yielded 10 ill-defined carriers of HT14 and 28 carriers of HT15 (Boosted file: S10). Although the number of published cases of HT with clinical manifestation of uniparental disomy is minor, in that location are some observations of involvement.

3.4.1. Sex ratio in patients with UPD(HT14)

Different asymptomatic individuals with biparental HT14, patients with UPD(HT14) demonstrate some male person predominance (vi Thou/2F), while the majority of them (eight of ten) had maternally derived rearrangement. More cases are needed for solid conclusion on the SR in this group.

three.4.2. Sexual practice ratio in patients with maternal UPD(HT15), Prader-Willi syndrome

Strong female predominance among patients with maternal UPD(HT15) was first reported in the discussion of the concept of trisomy correction due to parent-sex-specific loss [fifteen]. In previous studies, a male person predominance amid patients with maternal non-ROB UPD (fifteen) was suggested to be the result of either a bias of observation due to milder phenotype in female UPD patients or departure in survival of early trisomy xv conceptuses [74]. However, in dissimilarity, Kovaleva noted that amongst patients with UPD(HT15), there was no male person predominance, with five male person and 10 female carriers [15]. Mitchel et al. also suggested a possible difference in the probability of trisomic zygote rescue depending on the sex activity [74]. However, the predominant rescue of trisomic male zygotes would upshot in a male predominance in mosaic cases, while no male predominance was reported in a collective sample of l fetuses with T15 mosaicism (SR = 0.67) [xv]. Kovaleva suggested that the male prevalence amidst patients with non-ROB UPD(xv) can be explained by female-specific loss of a maternal chromosome, causing biparental inheritance and therefore complete correction of trisomy in females (without UPD) [fifteen]. For an explanation of the female predominance amid carriers of UPD(HT15), parent-sex-specific loss should be considered, merely in this instance, a preferential loss of paternal extra chromosome from female trisomic zygotes with unbalanced HT is suggested.

3.4.iii. Sex ratio in patients with paternal UPD(HT15), Angelman syndrome

Ix reported HT15 carriers with Angelman syndrome were males. All of viii tested for UPD patients had paternal isodisomy. Among homologous HT, the bulk of them were established to be isochromosomes. Several mechanisms of isochromosomes formation were discussed, including gametic complementation, trisomy rescue, and monosomy rescue. It was suggested that they mainly should be formed postzygotically (see for review [73]). Even so, postzygotic germination of pericentromeric rearrangements is essentially female-specific [15, 69].

A strong male prevalence among patients with UPD(HT15) can exist explained by meiotic event, nonhomologous co-orientation of the isochromosome with X chromosome during the first meiotic partitioning in the spermatocyte. In such a instance, Ten chromosome and isochromosome travel to the opposite poles, providing preferential segregation of isochromosome with Y chromosome. This mechanism, proven for Drosophila [75, 76], was proposed to explain male person excess among carriers of paternally derived regular trisomy 21 [77], likewise as male-biased SR in trisomic offspring fathered past carriers of dup(21) [78], and in trisomy 21 offspring inherited paternal noncontributing rearrangement [79].

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iv. Determination

It is interesting that very recently the epidemiology of Robertson translocations was suggested to this author as non worthy of any attending. Currently, in this field there are multiple unanswered questions. Farther studies are required to elucidate the nature of female person preponderance among carriers of Robertsonian translocation in newborns, also as of other intriguing phenomena uncovered in this newspaper, such as a nonuniformity in the HT spectrum and difference in sexual practice ratio between the carriers of the HT22 and the carriers of HT of the other acrocentric chromosomes. Moreover, chromosome 22 is rather mysterious in the context of the differences in the spectrum of nonhomologous translocations betwixt groups of patients with reproductive disorders. At that place is no clear understanding of the role of HT in the etiology of male person infertility and what factors make up one's mind the association of function of HT with impaired spermatogenesis. In addition, there are some aspects of ROB epidemiology non considered in this chapter, including interchromosomal effect and mosaicism.

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Acknowledgments

The writer is greatly indebted to Prof. Philip D. Cotter (Academy of California, San Francisco, USA) for the helpful comments and alteration English language in this paper and to Dr. Nikita Northward. Khromov-Borisov (Almazov National Medical Research Centre, St. Petersburg, Russia) for statistical analysis of the data.

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Written Past

Natalia V. Kovaleva

Submitted: March 22nd, 2018 Reviewed: June 1st, 2018 Published: March 15th, 2019

© 2019 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution 3.0 License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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