Trisomy 9 mosaicism and XX sex reversal

Benjamin D. Solomon, Clesson E. Turner, Darren Klugman, Susan E. Sparks

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a case of a phenotypic male infant who was referred to the genetics service due to dysmorphic features and congenital cardiac anomalies. Dysmorphic features included low-set, posteriorly rotated ears with squared, simple helices, midface hypoplasia, a broad nasal root with wide nasal alae, small mouth, micrognathia, short neck, overlapping fingers, rocker-bottom feet, prominent heels, and hypoplastic toenails. The phallus was normal and no testes were palpable in the scrotal sac. Cardiac anomalies included tricuspid atresia and a ventricular septal defect. The karyotype was 46,XX. Diagnostic microarray demonstrated evidence for trisomy 9 mosaicism, metaphase FISH revealed trisomy 9 on 7% of cultured cells, and interphase FISH analysis of a peripheral blood smear showed trisomy 9 in 78% of the cells examined. This is the first reported case of XX sex reversal in a patient with trisomy 9 mosaicism.

Original languageEnglish (US)
Pages (from-to)2688-2691
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number22
DOIs
StatePublished - Nov 15 2007
Externally publishedYes

Keywords

  • Chromosome 9
  • Sex reversal
  • Trisomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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