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9q12/qh+的经典常染色质变异会导致复发性流产吗?

Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions?

作者信息

Dundar M, Caglayan A O, Saatci C, Batukan C, Basbug M, Ozkul Y

机构信息

Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey.

出版信息

Genet Couns. 2008;19(3):281-6.

Abstract

Various heteromorphisms of the 9q heterochromatic area have been reported, and the 9q12/qh variant has been postulated to be more prevalent than initially perceived. Of note is that all probands are clinically normal. This paper documents two cases with a G-band within the 9q12h region and recurrent miscarriages. Patient 1 is a 22-year-old woman with a history of 2 miscarriages. Patient 2 is a 19-year-old woman with a history of 3 miscarriages. Chromosome analysis of the patients showed 46,XX,9q12h+. Thus, the existence of a G+ band in 9qh may not be a normal variant in humans. We suggest IVF and preimplantation genetic diagnosis in such patients.

摘要

已有关于9号染色体长臂异染色质区域各种异态性的报道,并且推测9q12/qh变异比最初认为的更为普遍。值得注意的是,所有先证者临床均正常。本文记录了两例在9q12h区域内有G带且反复流产的病例。患者1是一名22岁女性,有2次流产史。患者2是一名19岁女性,有3次流产史。对患者进行染色体分析显示为46,XX,9q12h+。因此,9qh中G+带的存在可能并非人类的正常变异。我们建议对此类患者进行体外受精和植入前基因诊断。

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