Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome | Zendy

Siddharth Prakash | Zendy; Dongchuan Guo | Zendy; Cheryl L. Maslen | Zendy; Michael Silberbach | Zendy; Dianna M. Milewicz | Zendy; Carolyn A. Bondy | Zendy

Open Access

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Author(s) -

Siddharth Prakash,

Dongchuan Guo,

Cheryl L. Maslen,

Michael Silberbach,

Dianna M. Milewicz,

Carolyn A. Bondy

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.77

Subject(s) - karyotype , monosomy , turner syndrome , biology , genetics , genotyping , snp array , autosome , cytogenetics , snp , single nucleotide polymorphism , x chromosome , snp genotyping , chromosome , genotype , gene , endocrinology

Turner syndrome is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1 in 2,500 females. We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations.

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