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Article

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

American journal of human genetics - 1 Dec 1998

Zinn A R, Tonk V S, Chen Z, Flejter W L, Gardner H A, Guerra R, Kushner H, Schwartz S, Sybert V P, Van Dyke D L, Ross J L

Abstract excerpt

Turner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease. We studied 28 apparently nonmosaic subjects with partial...

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Identifiers

PMID: 9837829
DOI: 10.1086/302152
PMCID: PMC1377648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.PMID 9837829Read ↗

Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF).Semantic proximity Read ↗

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.Semantic proximity Read ↗

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.Semantic proximity Read ↗

Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review.Semantic proximity Read ↗

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.Semantic proximity Read ↗

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

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained casesSemantic proximity Read ↗

The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes.Semantic proximity Read ↗

A multipoint linkage map of the distal short arm of the human X chromosome.Semantic proximity Read ↗

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.Semantic proximity Read ↗

Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.Semantic proximity Read ↗

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.Semantic proximity Read ↗

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