Cargando…

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 conv...

Descripción completa

Detalles Bibliográficos
Autores principales: Hajlaoui, Amani, Slimani, Wafa, Kammoun, Molka, Sallem, Amira, El Amri, Fathi, Chaieb, Anouar, Bibi, Mohamed, Saad, Ali, Mougou-Zerelli, Soumaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018184/
https://www.ncbi.nlm.nih.gov/pubmed/29935067
http://dx.doi.org/10.22074/ijfs.2018.5260
_version_ 1783334900324106240
author Hajlaoui, Amani
Slimani, Wafa
Kammoun, Molka
Sallem, Amira
El Amri, Fathi
Chaieb, Anouar
Bibi, Mohamed
Saad, Ali
Mougou-Zerelli, Soumaya
author_facet Hajlaoui, Amani
Slimani, Wafa
Kammoun, Molka
Sallem, Amira
El Amri, Fathi
Chaieb, Anouar
Bibi, Mohamed
Saad, Ali
Mougou-Zerelli, Soumaya
author_sort Hajlaoui, Amani
collection PubMed
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.
format Online
Article
Text
id pubmed-6018184
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Royan Institute
record_format MEDLINE/PubMed
spelling pubmed-60181842018-10-01 Subtelomeric Rearrangements in Patients with Recurrent Miscarriage Hajlaoui, Amani Slimani, Wafa Kammoun, Molka Sallem, Amira El Amri, Fathi Chaieb, Anouar Bibi, Mohamed Saad, Ali Mougou-Zerelli, Soumaya Int J Fertil Steril Original Article 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. Royan Institute 2018 2018-06-20 /pmc/articles/PMC6018184/ /pubmed/29935067 http://dx.doi.org/10.22074/ijfs.2018.5260 Text en Any use, distribution, reproduction or abstract of this publication in any medium, with the exception of commercial purposes, is permitted provided the original work is properly cited http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Hajlaoui, Amani
Slimani, Wafa
Kammoun, Molka
Sallem, Amira
El Amri, Fathi
Chaieb, Anouar
Bibi, Mohamed
Saad, Ali
Mougou-Zerelli, Soumaya
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage
title 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_short Subtelomeric Rearrangements in Patients with Recurrent Miscarriage
title_sort subtelomeric rearrangements in patients with recurrent miscarriage
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018184/
https://www.ncbi.nlm.nih.gov/pubmed/29935067
http://dx.doi.org/10.22074/ijfs.2018.5260
work_keys_str_mv AT hajlaouiamani subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT slimaniwafa subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT kammounmolka subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT sallemamira subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT elamrifathi subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT chaiebanouar subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT bibimohamed subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT saadali subtelomericrearrangementsinpatientswithrecurrentmiscarriage
AT mougouzerellisoumaya subtelomericrearrangementsinpatientswithrecurrentmiscarriage