Subtelomeric Rearrangements in Patients with Recurrent Miscarriage
Background The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but are also thought to be responsible for unexplained recurrent miscarriage (RM). Such rearrangements can go unnoticed through co...
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doaj-0efe1e4b54034104b868892330aedc1d2020-11-25T04:06:46ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782018-10-0112321822210.22074/ijfs.2018.526045493Subtelomeric Rearrangements in Patients with Recurrent MiscarriageAmani Hajlaoui0Wafa Slimani1Molka Kammoun2Amira Sallem3Fathi El Amri4Anouar Chaieb5Mohamed Bibi6Ali Saad7Soumaya Mougou-Zerelli8Department of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, TunisiaDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, TunisiaDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, TunisiaDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, TunisiaPrivate pediatrician, Tunis, TunisiaDepartment of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, TunisiaDepartment of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, TunisiaDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, TunisiaDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, TunisiaBackground The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but are also thought to be responsible for unexplained recurrent miscarriage (RM). Such rearrangements can go unnoticed through conventional cytogenetic techniques and are undetectable even with high-resolution molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH), especially when DNA of the stillbirth or families are not available. The aim of the study is to evaluate the rate of subtelomeric rearrangements in patients with RM. Materials and Methods In this cross-sectional study, fluorescent in situ hybridization (FISH), based on ToTelVysion telomeric probes, was undertaken for 21 clinically normal couples exhibiting a “normal” karyotype with at least two abortions. Approximately 62% had RM with a history of stillbirth or CA/ID while the other 38% had only RM. Results FISH detected one cryptic rearrangement between chromosomes 3q and 4p in the female partner of a couple (III:4) [46,XX,ish t(3;4)(q28-,p16+;p16-,q28+)(D3S4559+,D3S4560-,D4S3359+; D3S4560+, D4S3359- ,D4S2930+)] who presented a history of RM and family history of ID and CA. Analysis of the other family members of the woman showed that her sisters (III:6 and III:11) and brother (III:8) were also carriers of the same subtelomeric translocation t(3;4)(q28;p16). Conclusion We conclude that subtelomeric FISH should be undertaken in couples with RM especially those who not only have abortions but also have had at least one child with ID and/or CA, or other clinically recognizable syndromes. For balanced and cryptic anomalies, subtelomeric FISH still remains the most suitable and effective tool in characterising such chromosomal rearrangements in RM couples.http://www.ijfs.ir/article_45493_e355087d6f540d04d23f2a2455cc3734.pdfchromosomal aberrationfluorescent in situ hybridizationintellectual disabilitytranslocationspontaneous abortion |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Amani Hajlaoui Wafa Slimani Molka Kammoun Amira Sallem Fathi El Amri Anouar Chaieb Mohamed Bibi Ali Saad Soumaya Mougou-Zerelli |
spellingShingle |
Amani Hajlaoui Wafa Slimani Molka Kammoun Amira Sallem Fathi El Amri Anouar Chaieb Mohamed Bibi Ali Saad Soumaya Mougou-Zerelli Subtelomeric Rearrangements in Patients with Recurrent Miscarriage International Journal of Fertility and Sterility chromosomal aberration fluorescent in situ hybridization intellectual disability translocation spon taneous abortion |
author_facet |
Amani Hajlaoui Wafa Slimani Molka Kammoun Amira Sallem Fathi El Amri Anouar Chaieb Mohamed Bibi Ali Saad Soumaya Mougou-Zerelli |
author_sort |
Amani Hajlaoui |
title |
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage |
title_short |
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage |
title_full |
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage |
title_fullStr |
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage |
title_full_unstemmed |
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage |
title_sort |
subtelomeric rearrangements in patients with recurrent miscarriage |
publisher |
Royan Institute (ACECR), Tehran |
series |
International Journal of Fertility and Sterility |
issn |
2008-076X 2008-0778 |
publishDate |
2018-10-01 |
description |
Background The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but are also thought to be responsible for unexplained recurrent miscarriage (RM). Such rearrangements can go unnoticed through conventional cytogenetic techniques and are undetectable even with high-resolution molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH), especially when DNA of the stillbirth or families are not available. The aim of the study is to evaluate the rate of subtelomeric rearrangements in patients with RM. Materials and Methods In this cross-sectional study, fluorescent in situ hybridization (FISH), based on ToTelVysion telomeric probes, was undertaken for 21 clinically normal couples exhibiting a “normal” karyotype with at least two abortions. Approximately 62% had RM with a history of stillbirth or CA/ID while the other 38% had only RM. Results FISH detected one cryptic rearrangement between chromosomes 3q and 4p in the female partner of a couple (III:4) [46,XX,ish t(3;4)(q28-,p16+;p16-,q28+)(D3S4559+,D3S4560-,D4S3359+; D3S4560+, D4S3359- ,D4S2930+)] who presented a history of RM and family history of ID and CA. Analysis of the other family members of the woman showed that her sisters (III:6 and III:11) and brother (III:8) were also carriers of the same subtelomeric translocation t(3;4)(q28;p16). Conclusion We conclude that subtelomeric FISH should be undertaken in couples with RM especially those who not only have abortions but also have had at least one child with ID and/or CA, or other clinically recognizable syndromes. For balanced and cryptic anomalies, subtelomeric FISH still remains the most suitable and effective tool in characterising such chromosomal rearrangements in RM couples. |
topic |
chromosomal aberration fluorescent in situ hybridization intellectual disability translocation spon taneous abortion |
url |
http://www.ijfs.ir/article_45493_e355087d6f540d04d23f2a2455cc3734.pdf |
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