Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation

被引:15
作者
Akahoshi, K
Fukai, K
Kato, A
Kimiya, S
Kubota, T
Spritz, RA
机构
[1] Shimada Ryoiku Ctr, Tama Ku, Tokyo 2060036, Japan
[2] Osaka City Univ, Sch Med, Dept Dermatol, Osaka 545, Japan
[3] Natl Inst Neurosci, Dept Mental Retardat & Birth Defects Res, Tokyo, Japan
[4] Univ Colorado, Hlth Sci Ctr, Human Med Genet Program, Denver, CO USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 104卷 / 04期
关键词
hyperpigmentation; P gene; duplication; 15q;
D O I
10.1002/ajmg.10095
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe a woman with 15q11.2-q14 duplication who had clinical manifestations of proximal 15q trisomy and hyperpigmentation. Within this region, the P gene, located at chromosome segment 15q11.2-q12, is associated with oculocutaneous albinism type II (OCA2) and with hypopigmentation in the Prader-Willi and Angelman chromosome 15q deletion syndromes. We therefore hypothesized that in this woman skin hyperpigmentation might result from a duplication of the P gene. We carried out chromosomal and interphase fluorescence in situ hybridization (I-FISH) analyses, and determined that the P gene is duplicated in this woman. Our findings demonstrate that trisomy of the P gene can be associated with skin hyperpigmentation. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:299 / 302
页数:4
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