Detection of 22q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH22 syndrome

Indian Pediatrics

Volumn 42, Issue 12, 2005, Pages 1236-1239

  Halder, Ashutosh ^a   Fauzdar, Ashish ^a   Kabra, Madhulika ^a   Saxena, Anita ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

22q11.2 Deletion; CATCH22 Syndrome; Interphase FISH

Indexed keywords

ANGIOGRAPHY; ARTICLE; CASE REPORT; CATCH22 SYNDROME; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; ECHOCARDIOGRAPHY; EYE DISEASE; FACE DYSMORPHIA; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; HEMIZYGOSITY; HUMAN; MENTAL DEFICIENCY; MOLECULAR GENETICS; PHYSICAL EXAMINATION; SCHOOL CHILD; STRABISMUS; CHILD; CHROMOSOME 22; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; FACE; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FACE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; SYNDROME;

EID: 32644432311     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

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