Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features

European Journal of Medical Genetics

Volumn 52, Issue 1, 2009, Pages 62-66

  Leal, Teresinha ^a   Andrieux, Joris ^b   Duban Bedu, Bénédicte ^c   Bouquillon, Sonia ^c   Brevière, Georges Marie ^b   Delobel, Bruno ^c  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

19q13.32 deletion; Array CGH; Cleft lip and palate; Deafness; Mental retardation; Tetralogy of fallot

Indexed keywords

ADULT; AORTA DISEASE; ARTICLE; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME ABERRATION; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CORRELATION ANALYSIS; CRANIOFACIAL MALFORMATION; ENZYME ACTIVATION; FALLOT TETRALOGY; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENOTYPE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; KPTN GENE; MEGACOLON; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; SAE1 GENE; SLC8A2 GENE; SMOOTH MUSCLE;

EID: 58149107297     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.09.007     Document Type: Article

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