Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literature

American Journal of Medical Genetics

Volumn 65, Issue 4, 1996, Pages 309-316

  Leana Cox, Julie ^a   Pangkanon, Suthipong ^a   Eanet, Karen R ^a   Curtin, Martha S ^a   Wulfsberg, Eric A ^a,b  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b Division of Human Genetics   (United States)

Author keywords

cardiac malformation; cleft palate; mental retardation; microdeletion syndrome; thymic hypoplasia

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DIGEORGE SYNDROME; DISEASE CLASSIFICATION; FACE MALFORMATION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; PALATOPHARYNGEAL INCOMPETENCE; PARATHYROID DISEASE; PHENOTYPE; PRIORITY JOURNAL; THYMUS DISEASE;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FACE; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; SYNDROME;

EID: 0029849619     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961111)65:4<309::AID-AJMG12>3.0.CO;2-Y     Document Type: Article

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