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.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mm@yahoo.com
C P
CP
Chen
S P
SP
Lin
M
M
Chen
Y N
YN
Su
S R
SR
Chern
T Y
TY
Wang
Y P
YP
Liu
F J
FJ
Tsai
C C
CC
Lee
Y J
YJ
Chen
W
W
Wang
D000015:Abnormalities, Multiple; D000243:Adenosine Deaminase / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1; D018223:Dermatofibrosarcoma / Q000151:congenital / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005146:Facial Asymmetry / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D006801:Humans; D026901:Membrane Transport Proteins; D009030:Mosaicism; D009419:Nerve Tissue Proteins / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D016601:RNA-Binding Proteins; D011978:Receptors, Nicotinic / Q000235:genetics; D012303:Ring Chromosomes; D012878:Skin Neoplasms / Q000151:congenital / Q000235:genetics; D013121:Spinal Curvatures / Q000235:genetics; D000098854:Kcnj10 Channel
D000243:Adenosine Deaminase; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D024661:Potassium Channels, Inwardly Rectifying; D016601:RNA-Binding Proteins; D011978:Receptors, Nicotinic; D000098854:Kcnj10 Channel; C442860:CTTNBP2 protein, human; C567955:ADARB1 protein, human