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Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia
Author(s) -
Akahoshi Keiko,
Spritz Richard A.,
Fukai Kazuyoshi,
Mitsui Norimasa,
Matsushima Kazushige,
Ohashi Hirofumi
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20580
Subject(s) - dup , hypopigmentation , gene duplication , hyperpigmentation , oculocutaneous albinism , genetics , biology , supernumerary , pigmentation disorder , karyotype , angelman syndrome , fluorescence in situ hybridization , chromosome , gene , anatomy
Association of the pink‐eye‐dilution gene ( P ) with hypopigmentation is seen in patients who have oculocutaneous albinism type 2 (OCA2) and Prader–Willi syndrome (PWS) or Angelman syndrome (AS). However, it remains unknown whether duplication or amplification of the P gene causes hyperpigmentation. We previously reported a woman who had hyperpigmentation with a duplication of the proximal part of 15q, including the P gene. Here, we describe an additional patient with mosaicism of inv dup(15) and clinical manifestations of severe psychmoter retardation, epilepsy, and pigmentary dysplasia showing mottled and linear patterns of hyperpigmentation. His karyotype was 47,XY,+idic(15)(pter→q14::q14→pter)[38]/46,XY[12] de novo. Chromosomal fluorescence in situ hybridization (FISH) showed six copies of the P gene. Therefore, his cutaneous mosaicism might be caused by the presence of both normal and hyperpigmented skin due to multicopies of the P gene. © 2003 Wiley‐Liss, Inc.