Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 17, Pages 2016-2018Publisher
WILEY
DOI: 10.1002/ajmg.a.31736
Keywords
22q11.2 deletion syndrome; Mullerian agenesis; vaginal agenesis; renal agenesis
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Funding
- NCI NIH HHS [R01 CA039926-21A1, R01 CA039926, R01 CA039926-20] Funding Source: Medline
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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. (c) 2007 Wiley-Liss, Inc.
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