A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12-p21) deletion syndrome.
The clinical picture associated with a deletion of a central part of the short arm of chromosome no. 9 is described in two siblings. The clinical signs differ from those described in deletion of the terminal part of the short arm. Pericentric inversion of chromosome no. 9, combined with a rearrangement involving chromosomes 9 and 10, was found in the mother and the maternal grandmother of the propositus.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree