Acrocephalosyndactyly and partial trisomy 6.
A partial trisomy of the long arm of chromosome 6 was found in an infant with acrocephalosyndactyly (not Apert acrocephalosyndactyly). The mother had a balanced translocation involving the long arms of chromosomes 6 and 10. Other reports of similar aberrations are reviewed.
D000168:Acrocephalosyndactylia / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy