A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.
Koolen
D A
DA
Vissers
L E L M
LE
Nillesen
W
W
Smeets
D
D
van Ravenswaaij
C M A
CM
Sistermans
E A
EA
Veltman
J A
JA
de Vries
B B A
BB
de Vries
B D A
BD
D000015:Abnormalities, Multiple / Q000235:genetics*; D030301:Activin Receptors, Type II / Q000235:genetics; D000293:Adolescent; D002540:Cerebral Cortex / Q000473:pathology; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006628:Hirsutism / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008607:Intellectual Disability / Q000235:genetics*; D014034:Toes / Q000002:abnormalities
D030301:Activin Receptors, Type II; C425585:activin receptor type II-A