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DGAP Case # 123
NIGMS CCR Cell Line #
Karotype46,XX,ins(16;2)(q13;p16.2p21)pat.ish ins(16;2)(wcp2+;wcp2+)
Age19
Phenotypic Sexfemale
RaceWhite (not of Hispanic origin)
PhenotypeDevelopmental delay, behavioral problems (obsessive-compulsive disorder, Tourette syndrome, expressive apraxia and dysartria, central auditory processing disorder), seizures, left temporal lobe arachnoid cyst.
PubMed Link PMID: 18179900
Detailed Summary PDF
Contact Investigator James Gusella
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