Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies

Clinical Genetics

Volumn 63, Issue 4, 2003, Pages 308-313

  Digillo, Maria C ^a   Angioni, A ^a   De Santis, M ^b   Lombardo, A ^a   Giannotti, A ^a   Ballapiccola, B ^b,c   Marino, B ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

22q11.2 deletion; DiGeorge syndrome; Familial transmission; Genetic counselling; Velocardiofacial syndrome

Indexed keywords

ACCURACY; ALLELE; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE TRANSMISSION; FAMILIAL DISEASE; GENE LOCUS; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HAPLOIDY; HEREDITY; HUMAN; HYPOTHESIS; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; MOSAICISM; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PREVALENCE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SYMPTOMATOLOGY;

CHROMOSOMES, HUMAN, PAIR 22; FAMILY HEALTH; GENE DELETION; GENE EXPRESSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; SYNDROME;

EID: 0042632658     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00049.x     Document Type: Review

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