Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 679-684

  Isidor, Bertrand ^a   Le Cunff, Martine ^b,c   Boceno, Michelle ^a   Boisseau, Pierre ^a   Thomas, Caroline ^a   Rival, Jean Marie ^a   David, Albert ^a   Le Caignec, Cédric ^a,b,c  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c UNIVERSITÉ DE NANTES   (France)

Author keywords

1p36; aGH; AJAP1; Array CGH; CHD5; Deletion; Duplication; Mental retardation; MLPA; Neuroblastoma

Indexed keywords

AJAP1 GENE; ARTICLE; CARCINOGENESIS; CASE REPORT; CHD5 GENE; CHILD; CHROMOSOME 1P; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENE LOCATION; GENE REARRANGEMENT; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; HUMAN GENOME; KARYOTYPING; LIVER TUMOR; MENTAL DEFICIENCY; METHODOLOGY; MONOSOMY; MUSCLE HYPOTONIA; NEUROBLASTOMA; TNFRSF25 GENE; TUMOR REGRESSION;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MENTAL RETARDATION; NEUROBLASTOMA; TELOMERE;

EID: 56649085199     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.06.004     Document Type: Article

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