一名健康男性中色素失禁症的性腺嵌合体。

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

作者信息

Kirchman T T, Levy M L, Lewis R A, Kanzler M H, Nelson D L, Scheuerle A E

机构信息

Department of Dermatology, Stanford University Medical Center, California 94304, USA.

出版信息

J Med Genet. 1995 Nov;32(11):887-90. doi: 10.1136/jmg.32.11.887.

DOI:10.1136/jmg.32.11.887

PMID:8592334

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051742/

Abstract

Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY normal male karyotype. Linkage analysis of 12 polymorphic markers (two X linked and 10 autosomal) confirms paternity. X inactivation studies with the human androgen receptor (HUMARA) indicate that the paternal X chromosome is inactivated preferentially in each girl, implying that this chromosome carries the IP mutation, and that the father is a gonadal mosaic for the IP mutation.

摘要

色素失禁症（IP）是一种遗传性皮肤病，呈X连锁显性遗传，男性致死。多项研究已将该病与Xq28相关联。有少数患病男性的病例记录，其中大多数核型为47,XXY。我们报告了一个家族，有两个同父异母的姐妹均患色素失禁症。父亲健康，临床检查正常，核型为46,XY正常男性核型。对12个多态性标记（2个X连锁和10个常染色体）进行连锁分析证实了亲子关系。用人雄激素受体（HUMARA）进行的X染色体失活研究表明，每个女孩中父源X染色体优先失活，这意味着该染色体携带色素失禁症突变，且父亲是色素失禁症突变的性腺嵌合体。