Dundar M, Caglayan A O, Saatci C, Batukan C, Basbug M, Ozkul Y
Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey.
Genet Couns. 2008;19(3):281-6.
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.
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。