Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families

Neri, Giovanni; Serra, Angelo; Campana, Mattia; Tedeschi, Bruna

doi:10.1002/ajmg.1320160412

Cited by 66 publications

(37 citation statements)

References 48 publications

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“…The overall chromosomal anomalies found in our study are 3.35%. Similar to other studies [23] translocations were the common abnormalities in our study too with 79.41%. The affected translocation partner was female in 18 cases (66.66%) and male in 9 cases (33.33%).…”

Section: Discussionsupporting

confidence: 92%

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Dutta

Rajitha

Pidugu

et al. 2010

J Assist Reprod Genet

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Purpose The purpose of the present study was to investigate the contribution of chromosomal anomalies and the frequency of a particular type of aberration in couples with recurrent miscarriages. Methods A total of 1,162 couples with recurrent miscarriages were analyzed using G-banding and Fluorescence in situ hybridization where ever necessary. Results Chromosomal anomalies were detected in 78 cases. This study describes majority of the cases with balanced reciprocal translocations. Among the abnormal karyotypes we also report for the first time three unique translocations involving (3;14), (18;22) and (X;22) chromosomes which were confirmed by molecular cytogenetic methods. Conclusions The review of literature and the overall incidence of the abnormalities suggest that chromosomal analysis in couples with recurrent miscarriages should be taken up by all the practioners at all levels. This not only helps to check the cytological abnormalities but also helps to correlate the recurrent abnormalities in a given population. Thus establishing and correlating the environmental and genetic condition of that particular phenotype and genotype.

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Section: Discussionsupporting

confidence: 92%

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Dutta

Rajitha

Pidugu

et al. 2010

J Assist Reprod Genet

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“…9,10 The clinical consequences of such abnormal gametes include sterility, repeated abortions, and giving birth to malformed children. 11,12 Several studies have been done in various countries to determine the contribution of chromosome abnormalities in parents with fetal wastage. 13 To our knowledge, no such studies have been done in the Arabian Peninsula.…”

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confidence: 99%

Cytogenetic Study in Cases with Recurrent Abortion in Saudi Arabia

et al. 2000

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Background: A proportion of cases with repeated abortion are caused by chromosomal abnormality in one of the parents. Several studies have been done to determine the role of chromosomal abnormalities in couples with repeated fetal loss in various countries. None of these studies was done in the Arab Peninsula. Material and Methods: Cytogenetic study was done for 193 consecutive Saudi couples who presented with repeated abortion at the King Khalid University Hospital in Riyadh, Saudi Arabia. Results: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. The nature of those abnormalities and their relation to the obstetric history of cases were discussed. Approximately 15%-20% of clinically recognizable pregnancies end in spontaneous abortion. Conclusion1,2 The incidence of chromosomal abnormalities in those abortions is as high as 50%.3 A modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one of the parents. [4][5][6][7][8] This results from the production of gametes and embryos with unbalanced chromosome sets.9,10 The clinical consequences of such abnormal gametes include sterility, repeated abortions, and giving birth to malformed children. 11,12Several studies have been done in various countries to determine the contribution of chromosome abnormalities in parents with fetal wastage. 13 To our knowledge, no such studies have been done in the Arabian Peninsula. The aim of this study was to assess the frequency and nature of chromosomal aberrations that contribute to the occurrence of repeated abortions in Saudi Arabia. This should assist physicians in Saudi Arabia and other neighboring countries by increasing their awareness of the frequency of cytogenetic abnormalities in cases with repeated abortions. It also provides figures for comparison with other countries and research centers. Materials and MethodsThis study included all Saudi couples with repeated abortions who were referred for cytogenetic studies between December 1994 and December 1998 at King Khalid University Hospital in Riyadh, Saudi Arabia. All cases were ascertained to have had two or more spontaneous abortions. Couples who were referred because of having previous children with congenital anomalies and abortions were not included in the study. The obstetric history of couples was either recorded on the request form or retrieved from the files of patients.For routine cytogenetic analysis, 0.3 mL of peripheral blood was incubated in complete lymphocyte culture medium (10% fetal bovine serum in RPMI 1640, with 0.15% phytohemagglutinin and 1% Penstrept in 5% CO 2 incubator at 37°C for three days). Metaphases were harvested by adding colcemid for 20 minutes, followed by hypotonic KCl treatment for 5 minutes and fixation, using standard 3:1 methanol-acetic fixative (all the reagents were from GIBCO Life Technologies Ltd., Paisley, Scotland). The high-resolution study was done by synchronization, using methotrexate (10 -7 M...

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“…There is some overlap of features with del( lOq), including microcephaly, heart defects, and urinary tract anomalies [Gorinati et al, 1989;Wulfsberg et al, 19891. Estimating the reproductive risks for balanced translocation carriers is difficult. Most studies have focused on the risk either for producing a liveborn child with an unbalanced karyotype or miscarriage [Neri et al, 1983;Boue and Gallano, 1984;Daniel et al, 1989;Midro et al, 1992;Cans et al, 19931. Cytogenetic studies of sperm from carriers of other translocations have usually found a 1:l ratio of balanced to normal karyotypes [Brandriff et al, 1986;Templado et al, 1988;Martin, 1989Martin, , 1992Pellestor et al, 19891.…”

Section: Discussionmentioning

confidence: 99%

Follow-up of a familial translocation t(10;16) with an unusual segregation pattern

1996

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Bofinger et al. [Am J Med Genet 38:1–8, 1991] reported on a four‐generation family with an unusual segregation pattern involving a translocation t(10;16)(q26.3;p13.1). All relatives either had a balanced or unbalanced translocation. We report on five additional relatives, none of whom have a normal karyotype. This unusual segregation pattern may be due to chance or be the result of meiotic drive. © 1996 Wiley‐Liss, Inc.

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Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families

Cited by 66 publications

References 48 publications

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Cytogenetic Study in Cases with Recurrent Abortion in Saudi Arabia

Follow-up of a familial translocation t(10;16) with an unusual segregation pattern

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