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Fragile site at 12q13 associated with phenotypic abnormalities
Journal of Medical Genetics
|June 1, 1984
Abstract:
A dysmorphic 3 year old boy with severe psychomotor retardation is described. His karyotype was 45,XY,t(13q;14q)rob, fra (12q13). The relationship between fra(12q13) and the clinical picture is discussed.