Three patients with different phenotypes in a family with chromosome 22q11.2 deletions

Pediatrics International

Volumn 42, Issue 2, 2000, Pages 183-185

  Akiba, Tomoharu ^a,b   Odake, Akiko ^a   Shirahata, Emi ^a   Matsunaga, Akira ^a   Sakamoto, Michiyo ^a   Yazaki, Natsume ^a  

^a Yamagata City Hospital Saiseikan   (Japan)

^b Yamagata City Hospital Saiseikan   (Japan)

Author keywords

Asymmetric crying face; Cardiofacial syndrome; Chromosome 22q11.2 deletion; Familial occurrence

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; FACE MALFORMATION; HUMAN; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; DUCTUS ARTERIOSUS, PATENT; FACIAL ASYMMETRY; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; PEDIGREE; PHENOTYPE;

EID: 0034058739     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2000.01183.x     Document Type: Article

References (10)

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