Journal
AMERICAN JOURNAL OF MEDICAL GENETICS
Volume 104, Issue 4, Pages 299-302Publisher
WILEY-LISS
DOI: 10.1002/ajmg.10095
Keywords
hyperpigmentation; P gene; duplication 15q
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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.
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