Pierre-Robin sequence and severe mental retardation with chaotic behaviour associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)).
In this report we describe a severely mentally retarded male presenting an interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)). He presented a Pierre-Robin sequence at birth, and during childhood increasing behaviour problems were noted.
Vogels
A
A
Center for Human Genetics, University Hospital of Leuven, Belgium.
Haegeman
J
J
Fryns
J P
JP
D002648:Child; D002653:Child Behavior Disorders / Q000150:complications*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics*; D012720:Severity of Illness Index