Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

Clinical Genetics

Volumn 76, Issue 5, 2009, Pages 465-470

  Repetto, G M ^a,b   Guzman M L ^a   Puga, A ^a   Calderon J F ^a   Astete, C P ^c   Aracena, M ^c   Arriaza, M ^d   Aravena, T ^e   Sanz, P ^f  

^a UNIVERSIDAD DEL DESARROLLO   (Chile)

^b HOSPITAL PADRE HURTADO   (Chile)

^c HOSPITAL LUIS CALVO MACKENNA   (Chile)

^d Hospital Dr Gustavo Fricke   (Chile)

^e HOSPITAL DR SÓTERO DEL RÍO   (Chile)

^f HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

Author keywords

22q11 deletion; Chile; DiGeorge syndrome; Velocardiofacial syndrome

Indexed keywords

ARTICLE; CHILD; CHILE; CHROMOSOME 22Q MICRODELETION SYNDROME; CHROMOSOME DISORDER; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EPIDEMIOLOGICAL DATA; EUROPE; FEMALE; HEALTH CARE; HISPANIC; HUMAN; INCIDENCE; INFANT; JAPAN; MAJOR CLINICAL STUDY; MALE; MORTALITY; NEWBORN; PALATE MALFORMATION; PATIENT COUNSELING; PHENOTYPIC VARIATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; UNITED STATES;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHILE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HUMANS; MALE; SYNDROME;

EID: 70449409183     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01234.x     Document Type: Article

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