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

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 2016-2018

  Sundaram, Usha T ^a   McDonald McGinn, Donna M ^b   Huff, Dale ^c   Emanuel, Beverly S ^b   Zackai, Elaine H ^b   Driscoll, Deborah A ^b,c   Bodurtha, Joann ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

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

Indexed keywords

ABSENT UTERUS; ADOLESCENT; ADULT; AGENESIS; ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; DIGEORGE SYNDROME; ECHOCARDIOGRAPHY; ECHOGRAPHY; FAHR DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KIDNEY AGENESIS; LEARNING DISORDER; MUELLERIAN DUCT; PHENOTYPE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; SPEECH DEVELOPMENT; UTERUS MALFORMATION; VELOCARDIOFACIAL SYNDROME; BEHAVIOR DISORDER; CHROMOSOME 22Q11.2 DELETION SYNDROME; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; HYPOCALCEMIA; IMMUNE DEFICIENCY; KIDNEY MALFORMATION; SPEECH DISORDER;

ADOLESCENT; ADULT; AMENORRHEA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIAGNOSIS, DIFFERENTIAL; DIGEORGE SYNDROME; FEMALE; HUMANS; UTERUS;

EID: 34548361974     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31736     Document Type: Article

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