Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

Gopalrao V.N. Velagaleti, Anil Kumar, Lillian H. Lockhart, Reuben Matalon

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

We describe an uncommon association of deletion 22q11 in a patient with Klinefelter syndrome. Even though congenital heart defects (CHD) are not associated with Klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. While this finding may be coincidental, it is important to further evaluate patients when the clinical features are suggestive of a secondary abnormality. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

Original languageEnglish (US)
Pages (from-to)105-107
Number of pages3
JournalAnnales de Genetique
Volume43
Issue number2
DOIs
StatePublished - Jan 1 2000

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Keywords

  • Deletion 22q11
  • Klinefelter syndrome
  • Patent ductus arteriosus

ASJC Scopus subject areas

  • Genetics

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