Partial trisomy for the distal part of the long arm of chromosome 15--a new syndrome?
A malformed male neonate with partial trisomy 15q dist (q22----qter), because of malsegregation of a balanced translocation (7; 15) (p22; q22) in his mother, is described. Comparison of this patient with thirteen previously published cases of this trisomy reveals a pattern of common features including: peculiar craniofacial dysmorphism--facial asymmetry, antimongoloid slant, narrow or short palpebral fissures, prominent nose, long upper lip, micro or retrognathia, high arched palate, low set ears, malformed ears, protuberant occiput--, abnormal fingers and toes, short neck, mental and growth retardation, cardiopathy, respiratory distress etc.. The main clinical findings seem to be similar enough to justify the establishment of a new entity of partial trisomy 15q dist syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010159:Palate / Q000002:abnormalities; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics; D063173:Retrognathia / Q000235:genetics; D014314:Trisomy