Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome

Usha T. Sundaram, Donna M. McDonald-McGinn, Dale Huff, Beverly S. Emanuel, Elaine H. Zackai, Deborah A. Driscoll, Joann Bodurtha

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


The classic clinical features in the 22q11.2 deletion syndrome are congenital heart defects, hypocalcemia, immunodeficiency, learning, speech, and behavioral difficulties. The phenotype is highly variable and continues to expand. We present two cases of absent uterus and unilateral renal agenesis in females with the 22q11.2 deletion. Clinicians caring for these adolescents should be aware of the possibility of renal anomalies and Mullerian agenesis. The diagnosis of 22q11.2 deletion may be considered in a female with Mullerian agenesis, particularly, in association with a history of learning difficulties and speech delay.

Original languageEnglish (US)
Pages (from-to)2016-2018
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Issue number17
StatePublished - Sep 1 2007
Externally publishedYes


  • 22q11.2 deletion syndrome
  • Mullerian agenesis
  • Renal agenesis
  • Vaginal agenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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