Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome

Clinical Genetics

Volumn 61, Issue 5, 2002, Pages 380-383

  Sandrin Garcia, P ^a   Macedo, C ^a   Martelli, L R ^a   Ramos, E S ^a   Guion Almeida, M L ^a   Richieri Costa, A ^a   Passos, Geraldo A S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

22q11.2 deletion; Chromosome 22q11.2; DNA polymorphism; Germline mosaicism; Microsatellite DNA markers; Velocardiofacial syndrome

Indexed keywords

ARTICLE; BLOOD CELL; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DIGEORGE SYNDROME; DNA DETERMINATION; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENOTYPE; GERM LINE; HUMAN; MALE; MARKER GENE; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; SIBLING; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CRANIOFACIAL ABNORMALITIES; FEMALE; GENOTYPE; GERM CELLS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MOSAICISM;

EID: 0036590315     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610511.x     Document Type: Article

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