PMID- 21621018
OWN - NLM
STAT- MEDLINE
DCOM- 20111031
LR  - 20220331
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 54
IP  - 4
DP  - 2011 Jul-Aug
TI  - Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, 
      in a patient with pigmentary dysplasia: case report.
PG  - e446-50
LID - 10.1016/j.ejmg.2011.04.007 [doi]
AB  - Derivatives of chromosome 15, often referred to as inv dup(15), represent the 
      most common supernumerary marker chromosome (SMC). SMC(15)s can be classified 
      into two major groups according to their length: small SMC(15) and large ones. 
      Depending on the amount of euchromatin, the carriers may either present with a 
      normal phenotype or with a recognizable syndrome. Here we describe a patient with 
      severe mental retardation, epilepsy, dysmorphic features and pigmentary 
      dysplasia. His karyotype was 47,XY,+mar[41]/46,XY[9]. Chromosomal fluorescence in 
      situ hybridization (FISH) showed the SMC to be originating from chromosome 15, 
      dicentric and containing four copies of the Prader-Willi/Angelman Syndrome 
      Critical Region (PWACR), including the OCA2 gene. Molecular studies indicated 
      that it is maternally derived. This report supports the previous observations 
      assuming that severity of phenotype in patients with SMC(15) depends on the 
      dosage of the PWACR and that skin pigmentation is correlated to OCA2 gene copy 
      number.
CI  - Copyright (c) 2011 Elsevier Masson SAS. All rights reserved.
FAU - Kraoua, Lilia
AU  - Kraoua L
AD  - Charles Nicolle Hospital, Department of Congenital and Hereditary Diseases, 
      Tunis, Tunisia. Kraoua_lilia@yahoo.fr
FAU - Chaabouni, Myriam
AU  - Chaabouni M
FAU - Ewers, Elisabeth
AU  - Ewers E
FAU - Chelly, Imen
AU  - Chelly I
FAU - Ouertani, Ines
AU  - Ouertani I
FAU - Ben Jemaa, Lamia
AU  - Ben Jemaa L
FAU - Maazoul, Faouzi
AU  - Maazoul F
FAU - Liehr, Thomas
AU  - Liehr T
FAU - Chaabouni, Habiba
AU  - Chaabouni H
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20110506
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (OCA2 protein, human)
SB  - IM
MH  - Adolescent
MH  - Angelman Syndrome/*genetics
MH  - Chromosome Banding
MH  - Chromosome Disorders/genetics
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Humans
MH  - Male
MH  - Membrane Transport Proteins/*genetics
MH  - Phenotype
MH  - Pigmentation Disorders/*genetics
MH  - Prader-Willi Syndrome/*genetics
EDAT- 2011/05/31 06:00
MHDA- 2011/11/01 06:00
CRDT- 2011/05/31 06:00
PHST- 2011/01/14 00:00 [received]
PHST- 2011/04/18 00:00 [accepted]
PHST- 2011/05/31 06:00 [entrez]
PHST- 2011/05/31 06:00 [pubmed]
PHST- 2011/11/01 06:00 [medline]
AID - S1769-7212(11)00059-0 [pii]
AID - 10.1016/j.ejmg.2011.04.007 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2011 Jul-Aug;54(4):e446-50. doi: 10.1016/j.ejmg.2011.04.007. 
      Epub 2011 May 6.