Paternal uniparental disomy 14: introducing the "coat-hanger" sign.
Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias. Skin biopsy confirmed the clinical diagnosis of congenital cutis laxa, but this did not explain the limb abnormalities. Radiographic findings (particularly the "coat-hanger" configuration of the ribs on the chest radiograph), suggested a diagnosis of patUPD14, which was confirmed following DNA analysis. The patient died after prolonged respiratory failure. This combination of patUPD14 and congenital cutis laxa has not previously been described. Radiology can play a pivotal role in guiding the geneticist's choice of investigation.
Offiah
Amaka C
AC
Institute of Child Health, 30 Guilford Street, London, UK. amaka.offiah@gosh.nhs.uk
Cornette
Luc
L
Hall
Christine M
CM
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003483:Cutis Laxa / Q000151:congenital* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging*; D024182:Uniparental Disomy / Q000235:genetics*