Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-).

摘要

A male infant is presented with an extra derivate chromosome No. 9 resulting from a 3:1 meiotic segregation of a maternal balanced translocation involving the long arms of chromosomes No. 7 and 9. The patient is trisomic for the short arm and secondary constriction of the long arm of No. 9 and for the telomeric end of the long arm of No. 7. In addition to the features of the 9p trisomy syndrome he presents marked congenital myopia and extreme hypoplasia of the penis.