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Article

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

19 Sept 2010

Abstract excerpt

BACKGROUND: Sex determining factor (SRY) located on the short arm of the Y chromosome, plays an important role in initiating male sex determination, resulting in development of testicular tissue. Presence of the SRY gene in females results in XY sex reversal and increased risk of gonadal germ cell tumours if the karyotype also includes the so-called GonadoBlastoma on the Y chromosome (GBY) region. The majority of...

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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Hypothalamic control of reproductive hormones
Sexual Differentiation and Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 20849656
DOI: 10.1186/1471-2350-11-131

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A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patientPMID 20849656Read ↗

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.Semantic proximity Read ↗

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.Semantic proximity Read ↗

The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]Semantic proximity Read ↗

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.Semantic proximity Read ↗

Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis SyndromeSemantic proximity Read ↗

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A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.Semantic proximity Read ↗

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.Semantic proximity Read ↗

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.Semantic proximity Read ↗

Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.Semantic proximity Read ↗

[Genetic heterogeneity and phenotypic variability in 46,XY sex reversal].Semantic proximity Read ↗

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