双着丝粒Y染色体与混合性发育不全

Dicentric Y chromosome and mixed dysgenesis.

作者信息

Weckworth P F, Johnson H W, Pantzar J T, Coleman G U, Masterson J S, McGillivray B, Tze W J

机构信息

Department of Surgery (Urology), University of British Columbia, Vancouver, Canada.

出版信息

J Urol. 1988 Jan;139(1):91-4. doi: 10.1016/s0022-5347(17)42303-2.

DOI:10.1016/s0022-5347(17)42303-2

PMID:2891862

Abstract

We report 4 cases of mixed gonadal dysgenesis with a karyotype containing a dicentric Y chromosome. All cases were mosaic with 45X and 46X, dic(Y) cell lines. Of the patients 1 had ambiguous genitalia and some features of Turner's syndrome, 2 had classical features of Turner's syndrome with normal female external genitalia and 1 had no features of Turner's syndrome but he presented with penoscrotal hypospadias, inguinal hernia and cryptorchidism. Female gender assignment and early total gonadectomy should be considered when a dicentric Y chromosome is present in cases of mixed gonadal dysgenesis.

摘要

我们报告了4例混合性性腺发育不全病例，其核型含有一条双着丝粒Y染色体。所有病例均为45X和46X，dic(Y)细胞系的嵌合体。患者中1例有两性畸形和一些特纳综合征的特征，2例有特纳综合征的典型特征且女性外生殖器正常，1例无特纳综合征特征，但表现为阴茎阴囊型尿道下裂、腹股沟疝和隐睾。在混合性性腺发育不全病例中存在双着丝粒Y染色体时，应考虑女性性别指定和早期全性腺切除术。