SUBTELOMERIC REARRANGEMENTS IN PATIENTS WITH RECURRENT MISCARRIAGE

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HAJLAOUI AMANI; SLIMANI WAFA; KAMMOUN MOLKA; SALLEM AMIRA; EL AMRI FATHI; CHAIEB ANOUAR; BIBI MOHAMED; SAAD ALI; MOUGOU ZERELLI SOUMAYA

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Journal: International Journal of Fertility & Sterility Year:2018 | Volume:12 | Issue:3 Page(s): 218-222

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Title

SUBTELOMERIC REARRANGEMENTS IN PATIENTS WITH RECURRENT MISCARRIAGE

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Keywords

CHROMOSOMAL ABERRATION

FLUORESCENT IN SITU HYBRIDIZATION

INTELLECTUAL DISABILITY

TRANSLOCATION

SPONTANEOUS ABORTION

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.

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APA: Copy

HAJLAOUI, AMANI, SLIMANI, WAFA, KAMMOUN, MOLKA, SALLEM, AMIRA, EL AMRI, FATHI, CHAIEB, ANOUAR, BIBI, MOHAMED, SAAD, ALI, & MOUGOU ZERELLI, SOUMAYA. (2018). SUBTELOMERIC REARRANGEMENTS IN PATIENTS WITH RECURRENT MISCARRIAGE. INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY, 12(3), 218-222. SID. https://sid.ir/paper/306005/en

Vancouver: Copy

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. INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY[Internet]. 2018;12(3):218-222. Available from: https://sid.ir/paper/306005/en

IEEE: Copy

AMANI HAJLAOUI, WAFA SLIMANI, MOLKA KAMMOUN, AMIRA SALLEM, FATHI EL AMRI, ANOUAR CHAIEB, MOHAMED BIBI, ALI SAAD, and SOUMAYA MOUGOU ZERELLI, “SUBTELOMERIC REARRANGEMENTS IN PATIENTS WITH RECURRENT MISCARRIAGE,” INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY, vol. 12, no. 3, pp. 218–222, 2018, [Online]. Available: https://sid.ir/paper/306005/en

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