A girl with karyotype 46,XX,del(7)(qter-p 15:).
A girl with partial deletion of the short arms of one chromosome 7 is described. Among many other symptoms she has craniosynostoses. Early closure of cranio-sutures has previously been described in 2 of 3 patients with partial deletion 7. Investigation of a number of genetic marker systems shows that the HL-A, MN, AcP, and GPT loci are not located in the deleted segment.
D000328:Adult; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D003398:Craniosynostoses / Q000150:complications; D003878:Dermatoglyphics; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D010641:Phenotype