Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions. A review of 531 cases w...

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Veröffentlicht in:	Molecular cytogenetics 2016-11, Vol.9 (1), p.82-82, Article 82
Hauptverfasser:	Wang, Jia-Chi, Mahon, Loretta W, Ross, Leslie P, Anguiano, Arturo, Owen, Renius, Boyar, Fatih Z
Format:	Artikel
Sprache:	eng
Schlagworte:	DNA microarrays Gene mutations Physiological aspects Single nucleotide polymorphisms
Online-Zugang:	Volltext
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