PMID- 15054844
OWN - NLM
STAT- MEDLINE
DCOM- 20040423
LR  - 20220331
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 126A
IP  - 3
DP  - 2004 Apr 30
TI  - Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a 
      boy with pigmentary dysplasia.
PG  - 290-2
AB  - 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.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Akahoshi, Keiko
AU  - Akahoshi K
AD  - Department of Medical Genetics, Tokyo Children's Rehabilitation Hospital, Tokyo, 
      Japan. fwkt124@mb.infoweb.ne.jp
FAU - Spritz, Richard A
AU  - Spritz RA
FAU - Fukai, Kazuyoshi
AU  - Fukai K
FAU - Mitsui, Norimasa
AU  - Mitsui N
FAU - Matsushima, Kazushige
AU  - Matsushima K
FAU - Ohashi, Hirofumi
AU  - Ohashi H
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (OCA2 protein, human)
SB  - IM
MH  - Carrier Proteins/*genetics/metabolism
MH  - Child
MH  - Chromosome Banding
MH  - *Chromosome Inversion
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - Hyperpigmentation/*genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Membrane Proteins/*genetics/metabolism
MH  - *Membrane Transport Proteins
MH  - *Mosaicism
MH  - Psychomotor Disorders/genetics
EDAT- 2004/04/01 05:00
MHDA- 2004/04/24 05:00
CRDT- 2004/04/01 05:00
PHST- 2004/04/01 05:00 [pubmed]
PHST- 2004/04/24 05:00 [medline]
PHST- 2004/04/01 05:00 [entrez]
AID - 10.1002/ajmg.a.20580 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Apr 30;126A(3):290-2. doi: 10.1002/ajmg.a.20580.