ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT01322165 (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions), which is not on this map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.Hormone research in paediatrics · 2019Guideline
- Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report.Clinical case reports · 2025Article
- Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution.Scientific reports · 2025Article
- Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication.Annals of pediatric endocrinology & metabolism · 2023Article
- Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.Molecular genetics & genomic medicine · 2023Article
- Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Frontiers in endocrinology · 2023Article
- Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma.Frontiers in genetics · 2023Article
- Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.Diagnostics (Basel, Switzerland) · 2021Article
- A Review of Recent Developments in Turner Syndrome Research.Journal of cardiovascular development and disease · 2021Review
- The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis.Journal of clinical laboratory analysis · 2020Article
- Chromosomal imbalance in pigs showing a syndromic form of cleft palate.BMC genomics · 2019Article
- Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome.Bioscience reports · 2019Article
- Characteristic and influencing factors of Taqman genotyping calling error.Journal of clinical laboratory analysis · 2018Article
- TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome.PLoS genetics · 2018Article
- Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic FeaturesJournal of clinical research in pediatric endocrinology · 2018Article
- Diagnostic and therapeutic considerations in Turner syndrome.Annals of pediatric endocrinology & metabolism · 2017Review
- Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.The Journal of clinical endocrinology and metabolism · 2017Article
- Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.American journal of medical genetics. Part A · 2016Article
- Active centromere and chromosome identification in fixed cell lines.Molecular cytogenetics · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTurner 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.
methodsWe 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.
resultsWe 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.
conclusionOur 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.