De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature

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• 作者：Chantal Farra ; M.D.^a ; Sylke Singer ; M.Sc.^b ; Andreas Dufke ; M.D.^b ; Hanine Ashkar ; B.Sc.^a ; Carla Monsef ; B.Sc.^a ; Johnny Awwad ; M.D.^c ; ^{jawwad@aub.edu.lb}
• 关键词：Exceptional complex chromosomal rarrangement (CCR) ; male carrier ; recurrent abortions ; genetic counseling
• 刊名：Fertility and Sterility
• 出版年：2011
• 出版时间：November, 2011
• 年：2011
• 卷：96
• 期：5
• 页码：1160-1164
• 全文大小：271 K

文摘

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Objective

To report a de novo exceptional complex chromosomal rearrangement (CCR) with four breakpoints in the male partner of a couple with recurrent abortions.

Design

Case report and review of the literature.

Setting

Genetics laboratory in a private hospital.

Patient(s)

A couple referred for recurrent abortions.

Intervention(s)

Cytogenetic and sperm fluorescence in situ hybridization (FISH) techniques.

Main Outcome Measure(s)

Karyotype and FISH sperm results.

Result(s)

The couple was phenotypically normal, with no family history of miscarriage or infertility. Female karyotype was normal. Male karyotype followed by FISH analysis showed a de novo CCR with four breakpoints: t(5,13,16)(q11.1, q14.3, q12.2), ins(16;13)(q12.2;q?q14.2). ish t(5;13;16)(wcp5+,wcp13+), ins(16;13)(wcp13+).

Conclusion(s)

Exceptional de novo CCR male carriers with recurrent abortions are extremely rare. Patients with CCRs have limited options to achieve a normal pregnancy. Careful consideration and assessment should be provided upon counseling of couples with CCRs.