患有45,X/47,XX,+18嵌合体的患者出现具有不寻常表现的乌尔里希-特纳综合征表型。

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

作者信息

Franceschini P, Guala A, Camerano P, Franceschini D, Vardeu M P, Signorile F

机构信息

Istituto di Discipline Pediatriche, Servizio di Genetica Clinica, Università di Torino, Italy.

出版信息

Am J Med Genet. 1996 Mar 1;62(1):26-8. doi: 10.1002/(SICI)1096-8628(19960301)62:1<26::AID-AJMG6>3.0.CO;2-U.

DOI:10.1002/(SICI)1096-8628(19960301)62:1<26::AID-AJMG6>3.0.CO;2-U

PMID:8779320

Abstract

We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18.

摘要

我们报告了一名患有乌尔里希 - 特纳综合征表型和45,X/47,XX,+18染色体嵌合体的女孩。仅另有两名具有类似嵌合体的患者被报道过，她们都是具有XY性染色体组成的女孩。该患者面部高度不对称，右侧几乎正常，左侧呈现典型的乌尔里希 - 特纳综合征外观。通过对两侧面部的照片重叠，这一临床印象得到了强化。该患者智力正常，未表现出任何18三体综合征的体征。