Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Clinical Genetics

Volumn 68, Issue 4, 2005, Pages 373-378

  Fernández, Luis ^a   Lapunzina, P ^a   Arjona, D ^a   Lopez Pajares I ^a   Garcia Guereta L ^a   Elorza, D ^a   Burgueros, M ^a   De Torres, M L ^a   Mori, M A ^a   Palomares, M ^a   Garcia Alix A ^a   Delicado, A ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

22q11.2 deletion syndrome; DiGeorge velocardiofacial syndrome; FISH; MLPA; STR

Indexed keywords

ANALYTIC METHOD; ARTICLE; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIGEORGE SYNDROME; ECONOMIC ASPECT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE PROBE; GENETIC ASSOCIATION; HUMAN; INTERMETHOD COMPARISON; PRIORITY JOURNAL; RELIABILITY; SHORT TANDEM REPEAT; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOLECULAR PROBE TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SYNDROME; TANDEM REPEAT SEQUENCES; VELOPHARYNGEAL INSUFFICIENCY;

EID: 25144479378     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00493.x     Document Type: Article

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