Unknown

Dataset Information

0

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


ABSTRACT: PURPOSE: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. METHODS:We genotyped 187 Turner syndrome patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for Turner syndrome based on karyotypes (60%) or characteristic physical features. The SNP array results confirmed the diagnosis of Turner syndrome in 100% of cases. RESULTS:We identified a single X chromosome (45,X) in 113 cases. In 58 additional cases (31%), other mosaic cell lines were present, including isochromosomes (16%), rings (5%), and Xp deletions (8%). The remaining cases were mosaic for monosomy X and normal male or female cell lines. Array-based models of X chromosome structure were compatible with karyotypes in 104 of 116 comparable cases (90%). We found that the SNP array data did not detect X-autosome translocations (three cases) but did identify two derivative Y chromosomes and 13 large copy-number variants that were not detected by karyotyping. CONCLUSION:Our study is the first systematic comparison between the two methods and supports the utility of SNP array genotyping to address clinical and research questions in Turner syndrome.

SUBMITTER: Prakash S 

PROVIDER: S-EPMC3883919 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Prakash Siddharth S   Guo Dongchuan D   Maslen Cheryl L CL   Silberbach Michael M   Milewicz Dianna D   Bondy Carolyn A CA  

Genetics in medicine : official journal of the American College of Medical Genetics 20130606 1


<h4>Purpose</h4>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.<h4>Methods</h4>We genotyped 187 Turner syndrome patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for Turner syndrome based on kar  ...[more]

Similar Datasets

| S-EPMC2871542 | biostudies-literature
| S-EPMC4620965 | biostudies-literature
| S-EPMC4395401 | biostudies-literature
| S-EPMC4603861 | biostudies-literature
| S-EPMC10160013 | biostudies-literature
| S-EPMC4193858 | biostudies-literature
| S-EPMC4651459 | biostudies-literature
| S-EPMC5700462 | biostudies-literature
| S-EPMC9277788 | biostudies-literature
| S-EPMC6063780 | biostudies-literature