Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1390-1392

  Said, Edith ^a,b   Cuschieri, Alfred ^a   Vermeesch, Joris ^c   Fryns, Jean Pierre ^c  

^a UNIVERSITY OF MALTA   (Malta)

^b MATER DEI HOSPITAL   (Malta)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

22q12.1 22q12.2 deletion; Agenesis of the corpus callosum; Array CGH; Cardiac anomaly; Cryptic chromosomal rearrangement; Interstitial deletion; Pierre Robin sequence; Telecanthus; Toriello Carey syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME 22Q12; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CORPUS CALLOSUM AGENESIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; KARYOTYPE; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TELECANTHUS; TORIELLO CAREY SYNDROME;

ABNORMALITIES, MULTIPLE; AICARDI SYNDROME; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENES, RECESSIVE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; SYNDROME;

EID: 79956209825     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33961     Document Type: Article

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