XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype

Brad Angle*, Joseph H. Hersh, Frank Yen, Gerald D. Verdi

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

Most phenotypic females with an XY male karyotype do not have significant extragenital anomalies; however, some patients with additional abnormalities have been described. We report on an individual with XY gonadal dysgenesis, mental retardation, microcephaly, growth retardation, and multiple pterygia. Although not previously reported, the possible relationship between these findings is discussed in the context of evident heterogeneity of XY gonadal dysgenesis.

Original languageEnglish (US)
Pages (from-to)7-11
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume68
Issue number1
DOIs
StatePublished - Jan 10 1997

Keywords

  • XY gonadal dysgenesis
  • multiple pterygium
  • phenotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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