Partial deletion of the long arm of chromosome no. 13.
A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008831:Microcephaly / Q000175:diagnosis; D008850:Microphthalmos / Q000175:diagnosis