Two cases with different deletions of the long arm of chromosome 7.
Two mentally and physically retarded girls, one with an interstitial deletion 7 (pter leads to q21::q32 leads to qter), and the other with an interstitial deletion 7 (pter leads to q11::q22 leads to qter), are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The Hageman factor, the locus of which is assigned to the distal part of 7q, was in both cases within normal limits. The data available do not justify the delineation of a specific clinical syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005174:Factor XII / Q000032:analysis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping
D005174:Factor XII