Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.
A 16 year-old boy with monosomy 20p was studied. The clinical and radiological data compared with those from the three previously reported cases, permit the delineation of a distinct syndrome of low birthweight, flat face, low nasal bridge, long philtrum, short neck, small overfolded ears, chest deformity, kyphoscoliosis, congenital heart defect, hypoplastic or absent ribs and rachischisis (butterfly-shaped vertebral bodies). The critical chromosome segment causing this syndrome is tentatively defined as 20p13.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities; D002872:Chromosome Deletion; D002903:Chromosomes, Human, 19-20; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D009006:Monosomy; D011859:Radiography; D012272:Ribs / Q000002:abnormalities