Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

We report on a female infant with partial trisomy 9p (pter-->13) and partia l trisomy 14q (pter-->q22) resulting from a 3:1 segregation of a maternal r eciprocal translocation (9;14)(p13;q22), Both trisomy 9p and partial trisom y 14q have been described as recognized phenotypes with characteristic patt erns of anomalies. This patient appears to be the first reported with a par tial duplication of both 9p and 14q resulting in an overlapping phenotype i ncluding minor facial anomalies, cleft palate, and hand-foot anomalies. How ever, the facial findings were more pronounced than commonly observed in ca ses with only one or the other duplicated chromosome regions, resulting in a distinctive appearance. Am. J, Med, Genet, 84:132-136, 1999, (C) 1999 Wil ey-Liss, Inc.