Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (

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Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2003-09, Vol.12 (17), p.2145-2152
Hauptverfasser:	Yu, Wei, Ballif, Blake C., Kashork, Catherine D., Heilstedt, Heidi A., Howard, Leslie A., Cai, Wei-Wen, White, Lisa D., Liu, Wenbin, Beaudet, Arthur L., Bejjani, Bassem A., Shaw, Chad A., Shaffer, Lisa G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences chromosome 1 Chromosome Aberrations Chromosome Deletion Chromosome Disorders - diagnosis Chromosome Disorders - genetics Chromosomes, Human, Pair 1 - genetics Classical genetics, quantitative genetics, hybrids Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Genome, Human Human Humans In Situ Hybridization, Fluorescence Karyotyping Medical genetics Medical sciences Microsatellite Repeats Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis - methods Reproducibility of Results Sensitivity and Specificity Telomere - genetics
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Beschreibung
Zusammenfassung:	Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (
ISSN:	0964-6906 1460-2083 1460-2083
DOI:	10.1093/hmg/ddg230