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Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome
Author(s) -
Sundaram Usha T.,
McDonaldMcGinn Donna M.,
Huff Dale,
Emanuel Beverly S.,
Zackai Elaine H.,
Driscoll Deborah A.,
Bodurtha Joann
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31736
Subject(s) - primary amenorrhea , renal agenesis , agenesis , müllerian mimicry , uterus , medicine , karyotype , pediatrics , gynecology , anatomy , endocrinology , biology , pathology , chromosome , kidney , genetics , gene
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. © 2007 Wiley‐Liss, Inc.