TY - JOUR
T1 - Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome
AU - Sundaram, Usha T.
AU - McDonald-McGinn, Donna M.
AU - Huff, Dale
AU - Emanuel, Beverly S.
AU - Zackai, Elaine H.
AU - Driscoll, Deborah A.
AU - Bodurtha, Joann
PY - 2007/9/1
Y1 - 2007/9/1
N2 - 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.
AB - 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.
KW - 22q11.2 deletion syndrome
KW - Mullerian agenesis
KW - Renal agenesis
KW - Vaginal agenesis
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U2 - 10.1002/ajmg.a.31736
DO - 10.1002/ajmg.a.31736
M3 - Article
C2 - 17676598
AN - SCOPUS:34548361974
SN - 1552-4825
VL - 143
SP - 2016
EP - 2018
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 17
ER -