DiGeorge syndrome: Clinical variability in a family with submicroscopic deletion at 22qll.2

Acta Paediatrica Sinica

Volumn 38, Issue 1, 1997, Pages 52-56

  Tsui, Kan Ming ^a  

^a DEPARTMENT OF HEALTH   (Hong Kong)

Author keywords

DiGeorge syndrome; Variability of presentation; Velocardiofacial syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCATION; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFANT; MALE; PATHOGENESIS; PRESCHOOL CHILD; THYMUS DISEASE;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE;

EID: 0030992510     PISSN: 00016578     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (2)

1. Driscoll DA, Budarf ML, Emauel BS. A genetic etiology for DiGeorge syndrome consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992; 50:924-33.
2. Desmaze C, Scambler PJ, Prieur S. et al. Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum Genet 1993; 90:663-5.