A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.
A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome associated with ring chromosome 14, r(14), has been established, no distinct pattern has been so far reported in 14q-.
Yen
F S
FS
Department of Pediatrics, University of Louisville School of Medicine, Kentucky.
Podruch
P E
PE
Weisskopf
B
B
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D004423:Ear / Q000473:pathology; D005886:Gingival Hypertrophy / Q000150:complications / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D010159:Palate / Q000002:abnormalities*