伴有X0/XY嵌合体的唐氏综合征。

Down's syndrome with X0/XY mosaicism.

作者信息

Yeung C Y, Yang L

出版信息

Acta Paediatr Scand. 1976 May;65(3):391-5. doi: 10.1111/j.1651-2227.1976.tb04903.x.

DOI:10.1111/j.1651-2227.1976.tb04903.x

PMID:5841

Abstract

A 5-month-old Chinese infant with combined Down's syndrome and X0/XY mosaicism is presented. The phenotypical features of mongolism are classical and unmodified. The somatic effects of X0/XY mosaicism is that of incomplete masculinization with short phallus, hypospadias, bifid scrotum, urogenital sinus, and bilateral extra-abdominal infantile testicles. These features together with the absence of internal female organs and signs of Turner's syndrome in this patient are different from the previous reported cases of mixed gonadal dysgenesis.

摘要

本文报告了一名5个月大的患有唐氏综合征和X0/XY嵌合体的中国婴儿。蒙古症的表型特征是典型且未改变的。X0/XY嵌合体的躯体效应是不完全男性化，表现为阴茎短小、尿道下裂、阴囊分裂、泌尿生殖窦以及双侧腹外婴儿型睾丸。这些特征以及该患者体内无女性内生殖器和特纳综合征体征，与先前报道的混合性性腺发育不全病例不同。

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Down-Turner syndrome: case report and review.唐氏综合征：病例报告与综述

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Two cases of familial paracentric inversion in man associated with sex chromosome anomaly. 47,XXY,inv(5)(q21q32) and 45,X,inv(7)(q11.3q22.3).

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