Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
A 28 year old man with mental retardation and therapeutically controlled schizophrenia was found to have a de novo interstitial deletion in the long arm of a chromosome 9 (46,XY,del(9)(q32q34.1). Additional phenotypic abnormalities included short stature, a short webbed neck with a low posterior hairline, dysmorphic facies, a narrow palate with an inverted V soft palate, and tapered fingers with bilateral short fifth metacarpals. Interstitial deletion of chromosome 9 is a rare finding and we are aware of only one other case involving the q32q34.1 region.
Park
J P
JP
Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire 03756.
Moeschler
J B
JB
Berg
S Z
SZ
Wurster-Hill
D H
DH
D000328:Adult; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D005149:Facial Expression; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012559:Schizophrenia / Q000235:genetics*