Current Issue

Volume 12, Number 3, Oct-Dec 2018, Pages: 218-222

Subtelomeric Rearrangements in Patients with Recurrent Miscarriage


Amani Hajlaoui, M.Sc, 1, Wafa Slimani, M.Sc, 1, Molka Kammoun, M.D, 1, Amira Sallem, M.D, 1, Fathi El Amri, M.D, 2, Anouar Chaieb, M.D, 3, Mohamed Bibi, M.D, 3, Ali Saad, M.D., Ph.D, 1, Soumaya Mougou-Zerelli, M.D., Ph.D, 1, *,
Department of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
Private pediatrician, Tunis, Tunisia
Department of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, Tunisia
*Corresponding Address: Department of Cytogenetic and Reproductive Biology Farhat Hached University Teaching Hospital Rue Ibn El Jazzar Sousse 4000 Tunisia Email:mougousoumaya@yahoo.fr

Abstract

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.