Familial paracentric inversion of 1p.
We report a paracentric inversion of 1p in a boy with mild mental retardation. The chromosome aberration was identified by high resolution chromosome banding, and was also present in his phenotypically normal mother and other relatives. The boy's karyotype was considered to be 46,XY,inv(1) (p31,2p36.22) ISCN (1981).
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D003241:Consanguinity; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male