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

Brad Angle*, Frank Yen, Cameron W. Cole

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)132-136
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume84
Issue number2
DOIs
StatePublished - 1999

Keywords

  • Chromosome abnormality
  • Reciprocal translocation
  • Trisomy 14q
  • Trisomy 9p

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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