一例具有嵌合双着丝粒、四着丝粒和八着丝粒Y染色体的病例。

A case with mosaic di-, tetra-, and octacentric ring Y chromosomes.

作者信息

Henegariu O, Pescovitz O H, Vance G H, Verbrugge J, Heerema N A

机构信息

Department of Medical and Molecular Genetics, Indiana University, Indianapolis, USA.

出版信息

Am J Med Genet. 1997 Sep 5;71(4):426-9.

PMID:9286449

Abstract

A newborn female infant presented with abnormalities of the external genitalia including a 3 x 1 cm phallic structure, a perineal urethral opening, bifid scrotum, and a single urogenital opening. Peripheral blood karyotype was 45,X[81]/46,X,+r(Y)[19], however, there were no signs of Ullrich-Turner syndrome. High resolution G-banding as well as C- and Q-banding did not demonstrate any specific banding pattern or presence of heterochromatin on the ring. However, it was noticed that some of the rings were larger than others. FISH with a probe for Yq12 was negative in all metaphases studied. A Y-specific paint probe hybridized to the entire ring chromosome, confirming its origin. PCR analysis showed the presence of the SRY locus and of proximal Yq locus DYS271. Triple color FISH with probes for the Y centromere, DYZ5 (Yp), and all human telomeres showed the existence of different types of rings, some dicentric, some tetracentric, and some probably octacentric. Owing to the increased risk for gonadoblastoma, a surgical removal of the gonads was performed.

摘要

一名新生女婴出现外生殖器异常，包括一个3×1厘米的阴茎样结构、会阴尿道开口、阴囊分裂和单一泌尿生殖开口。外周血核型为45,X[81]/46,X,+r(Y)[19]，然而，没有 Ullrich-Turner 综合征的迹象。高分辨率G显带以及C带和Q带均未显示环上有任何特定的带型或异染色质存在。然而，注意到一些环比其他环大。用Yq12探针进行的荧光原位杂交（FISH）在所有研究的中期相中均为阴性。一种Y特异性涂染探针与整个环状染色体杂交，证实了其来源。聚合酶链反应（PCR）分析显示存在SRY基因座和近端Yq基因座DYS271。用Y着丝粒、DYZ5（Yp）和所有人端粒的探针进行的三色FISH显示存在不同类型的环，一些是双着丝粒的，一些是四着丝粒的，还有一些可能是八着丝粒的。由于患性腺母细胞瘤的风险增加，遂进行了性腺切除术。