A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

Clinical Dysmorphology

Volumn 15, Issue 3, 2006, Pages 133-137

  Ruiter, Mariken ^a   Koolen, David A ^a   Pfundt, Rolph ^a   De Leeuw, Nicole ^a   Klinkers, Harry M J ^b   Sistermans, Erik A ^a   Veltman, Joris A ^a   De Vries, Bert B A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b TweeSteden Hospital   (Netherlands)

Author keywords

Array comparative genomic hybridization; Mental retardation; Microduplication; Molecular cytogenetics; Nitric oxide synthase 1; Replication factor C5; Thyroid hormone receptor associated protein 2

Indexed keywords

NEURONAL NITRIC OXIDE SYNTHASE; PROTEIN; REPLICATION FACTOR C; THYROID HORMONE RECEPTOR ASSOCIATED PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO DEVELOPMENT; EPICANTHUS; FEMALE; GENE EXPRESSION; HEARING IMPAIRMENT; HUMAN; HYPERTELORISM; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RECURRENT INFECTION; SHORT STATURE; SPASTICITY; CHROMOSOME 12; CHROMOSOME ABERRATION; CLUBFOOT; CONGENITAL MALFORMATION; FACE; FINGER; GENETICS; MULTIPLE MALFORMATION SYNDROME; NAIL DISEASE; PATHOLOGY; PSYCHOMOTOR DISORDER; QUADRIPLEGIA; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 12; CLUBFOOT; DEAFNESS; FACE; FEMALE; FINGERS; HUMANS; MENTAL RETARDATION; NAILS, MALFORMED; PSYCHOMOTOR DISORDERS; QUADRIPLEGIA; SYNDROME;

EID: 33748164408     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000220605.94413.bb     Document Type: Article

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