一名患有唐氏-特纳双重非整倍体的婴儿：病例报告及文献综述。
An infant with Down-Turner double aneuploidy: a case report and literature review.
作者信息
Jaruratanasirikul S, Jinorose U
机构信息
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Thailand.
出版信息
J Med Assoc Thai. 1995 Feb;78(2):108-12.
PMID:7629445
Abstract
The case of an 8 month-old female infant with non-mosaic Down-Turner double aneuploidy is reported. She had Down facies without stigmata of Turner syndrome. A review of 22 previous reported cases revealed mosaicism in all cases, either 21 mosaic or X mosaic. Our patients is the first reported case of non-mosaic trisomy 21-monosomy X polysyndrome in Thailand.
摘要
本文报告了一例8个月大的非嵌合型唐氏-特纳双重非整倍体女婴病例。她具有唐氏面容，但无特纳综合征体征。对之前报道的22例病例进行回顾发现，所有病例均存在嵌合现象，要么是21号染色体嵌合，要么是X染色体嵌合。我们的患者是泰国首例报道的非嵌合型21三体-单体X多综合征病例。
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