Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis | Zendy

Brigitte H. W. Faas | Zendy; I. van der Bürgt | Zendy; Angelique J. A. Kooper | Zendy; Rolph Pfundt | Zendy; Jayne Y. HehirKwa | Zendy; Arie P.T. Smits | Zendy; Nicole de Leeuw | Zendy

Open Access

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Author(s) -

Brigitte H. W. Faas,

I. van der Bürgt,

Angelique J. A. Kooper,

Rolph Pfundt,

Jayne Y. HehirKwa,

Arie P.T. Smits,

Nicole de Leeuw

Publication year - 2010

Publication title -

journal of medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.439

H-Index - 170

eISSN - 1468-6244

pISSN - 0022-2593

DOI - 10.1136/jmg.2009.075853

Subject(s) - snp array , uniparental disomy , biology , genetics , copy number variation , fetus , prenatal diagnosis , single nucleotide polymorphism , karyotype , products of conception , snp , bioinformatics , genome , chromosome , pregnancy , gene , genotype , abortion

The implementation of microarray analysis in prenatal diagnostics is a topic of discussion, as rare copy number variants with unknown/uncertain clinical consequences are likely to be found. The application of targeted microarrays limits such findings, but the potential disadvantage is that relevant, so far unknown, aberrations might be overlooked. Therefore, we explore the possibilities for the prenatal application of the genome-wide 250k single nucleotide polymorphism array platform.

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