Mosaic Supernumerary R(1)(P13.2q23.3) in a 10-Year-Old Girl with Epilepsy, Facial Asymmetry, Psychomotor Retardation, Kyphoscoliosis, Dermatofibrosarcoma and Multiple Exostoses
Resource
GENETIC COUNSELING v.22 n.3 pp.273-280
Journal
GENETIC COUNSELING
Journal Volume
v.22
Journal Issue
n.3
Pages
273-280
Date Issued
2011
Date
2011
Author(s)
CHEN, CHIH-PING
LIN, SHUAN-PEI
CHEN, MING
SU, YI-NING
CHERN, SCHU-RERN
WANG, TAO-YEUAN
LIU, YU-PENG
TSAI, FUU-JEN
LEE, CHEN-CHI
CHEN, YANN-JANG
WANG, WAYSEEN
Abstract
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses: We report molecular cytogenetic characterization of mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation , kyphoscoliosis, dermatofibrosarcoma and multiple exostoses. The supernumerary r(1) is associated with gene dosage increase of CHRNB2, ADAR and KCNJ10 in the pericentromeric area of 1q, and a breakpoint within CTTNBP2NL, at 1p13.2. We speculate that the gene dosage increase of CHRNB2 , ADAR and KCNJ10 is most likely responsible for epilepsy, and the breakpoint at 1p13.2 in the supernumerary r(1) is most likely responsible for the development of multiple exostoses and osteochondroma in this patient.
Subjects
1p13.2
ADAR
CHRNB2
Chromosome 1 duplication
CTTNBP2NL
Epilepsy
KCNJ10
Multiple exostoses
Osteochondroma
Supernumerary ring chromosome 1