Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation.
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.
Akahoshi
K
K
Shimada Ryoiku Center, Nakazawa 1-31-1, Tama, Tokyo 206-0036, Japan. fwkt4124@mb.infoweb.ne.jp
Fukai
K
K
Kato
A
A
Kimiya
S
S
Kubota
T
T
Spritz
R A
RA
D002352:Carrier Proteins / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics / Q000473:pathology*; D017404:In Situ Hybridization, Fluorescence; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008875:Middle Aged; D014314:Trisomy
D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human