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

Am J Med Genet. 1999 May 21;84(2):132-6. doi: 10.1002/(sici)1096-8628(19990521)84:2<132::aid-ajmg9>3.0.co;2-t.

Abstract

We report on a female infant with partial trisomy 9p (pter-->p13) and partial trisomy 14q (pter-->q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic patterns of anomalies. This patient appears to be the first reported with a partial duplication of both 9p and 14q resulting in an overlapping phenotype including minor facial anomalies, cleft palate, and hand-foot anomalies. However, the facial findings were more pronounced than commonly observed in cases with only one or the other duplicated chromosome regions, resulting in a distinctive appearance.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 9*
  • Female
  • Foot Deformities, Congenital / genetics
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Phenotype
  • Translocation, Genetic*
  • Trisomy*