一名患有双侧上臂缺如的46,XY婴儿，存在女性外生殖器、无子宫及可能的性腺发育不全。
Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia.
作者信息
Ohro Y, Suzuki Y, Tsutsumi Y, Ogata T
机构信息
Department of Pediatrics, Toyohashi Municipal Hospital, Aichi, Japan.
出版信息
Clin Genet. 1998 Jul;54(1):52-5. doi: 10.1111/j.1399-0004.1998.tb03693.x.
Abstract
This report describes a 46,XY phenotypic female infant with absent uterus, probable agonadism, and bilateral upper amelia. The constellation of anomalies is similar to that of the patient described by Temoçin et al. (Acta Paediatr Jpn 1997: 39: 631-633), and may suggest a developmental link between genital region and upper limbs.
摘要
本报告描述了一名46,XY表型的女婴，其子宫缺如，可能为无性腺症，且双侧上臂缺如。这一系列异常情况与Temoçin等人（《日本儿科学报》1997年；39: 631 - 633）所描述的患者相似，可能提示生殖区域与上肢之间存在发育关联。
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