Partial trisomy 16 as a result of familial 16;20 translocation.
Although trisomy 16 is well recognised in spontaneous abortuses, it is infrequent in livebirths and there is little information about the clinical effects. We report two sibs with partial trisomy 16q resulting in infant death. Both children were severely growth retarded with small elfin faces, prominent foreheads, low set ears, abnormal external genitalia, and intractable diarrhoea.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002902:Chromosomes, Human, 16-18; D002903:Chromosomes, Human, 19-20; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy