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 N Bodurtha

Research output: Contribution to journalArticle

Abstract

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
Volume143
Issue number17
DOIs
StatePublished - Sep 1 2007
Externally publishedYes

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DiGeorge Syndrome
Amenorrhea
Uterus
Learning
Language Development Disorders
Hypocalcemia
Congenital Heart Defects
Phenotype
Kidney
Hereditary renal agenesis

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Sundaram, U. T., McDonald-McGinn, D. M., Huff, D., Emanuel, B. S., Zackai, E. H., Driscoll, D. A., & Bodurtha, J. N. (2007). Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. American Journal of Medical Genetics, Part A, 143(17), 2016-2018. https://doi.org/10.1002/ajmg.a.31736

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. / Sundaram, Usha T.; McDonald-McGinn, Donna M.; Huff, Dale; Emanuel, Beverly S.; Zackai, Elaine H.; Driscoll, Deborah A.; Bodurtha, Joann N.

In: American Journal of Medical Genetics, Part A, Vol. 143, No. 17, 01.09.2007, p. 2016-2018.

Research output: Contribution to journalArticle

Sundaram, UT, McDonald-McGinn, DM, Huff, D, Emanuel, BS, Zackai, EH, Driscoll, DA & Bodurtha, JN 2007, 'Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome', American Journal of Medical Genetics, Part A, vol. 143, no. 17, pp. 2016-2018. https://doi.org/10.1002/ajmg.a.31736
Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA et al. Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. American Journal of Medical Genetics, Part A. 2007 Sep 1;143(17):2016-2018. https://doi.org/10.1002/ajmg.a.31736
Sundaram, Usha T. ; McDonald-McGinn, Donna M. ; Huff, Dale ; Emanuel, Beverly S. ; Zackai, Elaine H. ; Driscoll, Deborah A. ; Bodurtha, Joann N. / Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. In: American Journal of Medical Genetics, Part A. 2007 ; Vol. 143, No. 17. pp. 2016-2018.
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