Interstitial deletion of 18q: Comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33)

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 88, Issue 2, 2010, Pages 132-135

  Kato, Zenichiro ^a   Morimoto, Wataru ^a,b   Kimura, Takeshi ^a   Matsushima, Akihiro ^b   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b National Hospital Organization Nanao Hospital   (Japan)

Author keywords

18q; Comparative genomic hybridization; Interstitial deletion; Methyl Cog binding domain protein; Transcription factor 4

Indexed keywords

METHYL CPG BINDING PROTEIN 2; TRANSCRIPTION FACTOR;

ADULT; AGENESIS; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; EAR MALFORMATION; EPICANTHUS; FEMALE; GENE; GENETIC DISORDER; GENETIC TRANSCRIPTION; GROWTH RETARDATION; HUMAN; HYPERTELORISM; HYPOPLASIA; METHYL CPG BINDING PROTEIN 1 GENE; METHYL CPG BINDING PROTEIN 2 GENE; MUSCLE HYPOTONIA; PALPEBRAL FISSURE; PHILTRUM; PITT HOPKINS SYNDROME; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETT SYNDROME; STRABISMUS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PSYCHOMOTOR DISORDERS; RETT SYNDROME; SYNDROME; TRANSCRIPTION FACTORS;

CYPRINIDAE;

EID: 76749165708     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20633     Document Type: Article

References (5)

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2. Schinzel A, Hayashi K, Schmid W. 1975. Structural aberrations of chromosome 18. II. The 18q-syndrome. Report of three cases. Humangenetik 26:123-132.
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5. Zweier C, Peippo MM, Hoyer J, et al. 2007. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80:994-1001.