45 X 46 Xy Support

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The phenotype of 45,X/46,XY mosaicism: an analysis of 92 ...

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683543/
    We conclude that 95% of 45,X/46,XY fetuses will have normal male genitalia, although there will also be a significant risk (27%) for abnormal gonadal histology. Long-term follow-up studies of prenatally diagnosed cases of 45,X/46,XY mosaicism are needed to study, without ascertainment bias, stature, pubertal development, tumor risk, and fertility.Cited by: 236

45,X/46,XY mosaicism - Wikipedia

    https://en.wikipedia.org/wiki/45,X/46,XY_mosaicism
    45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. This is called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell.Specialty: Obstetrics and gynaecology, endocrinology, …

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X ...

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801266/
    Abstract. The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them with 41 45,X/46,XX patients diagnosed postnatally.Cited by: 84

45,X/46,XY - Rare Chromo

    https://www.rarechromo.org/media/information/Chromosome_Y/45X%2046XY%20%20including%20Y%20chromosome%20rearrangements%20FTNW.pdf
    what we call 45,X/46,XY: the variations are very complex, and the actual result in living individuals is often not a simple picture of having some of their cells with 45 chromosomes [one of which is an X] and the rest with 46 chromosomes [one an X and one ... including doctors and support groups, use terms that are now out of use.

45,X/46,XY mosaicism: the role of ultrasound in prenatal ...

    https://obgyn.onlinelibrary.wiley.com/doi/abs/10.1046/j.1469-0705.1996.08050325.x
    The purpose of this study was to assess the benefit of ultrasound evaluation for fetuses with prenatally diagnosed 45,X/46,XY mosaicism. The charts of all patients who underwent chorionic villus sampling and/or amniocentesis between 1 March 1990 and 31 October 1995 were screened for …Cited by: 7

45,X/46,XY Mosaicism - an overview ScienceDirect Topics

    https://www.sciencedirect.com/topics/medicine-and-dentistry/45-x-46-xy-mosaicism
    Given 90% of 45,X/46,XY fetuses ascertained at amniocentesis having a normal male phenotype at birth (159), this is the most common phenotype for this mosaicism. That 45,X/46,XY neonates with genital ambiguity are recognized more often simply reflects biases of ascertainment.

Variation of Gonadal Dysgenesis and Tumor Risk in Patients ...

    https://www.sciencedirect.com/science/article/pii/S0090429519311161
    Dec 27, 2019 · 45,X/46,XY mosaicism is commonly observed in patients with ambiguous genitalia caused by gonadal dysgenesis. Based on the gonadal histology, 45,X/46,XY mosaicism and its variants are classified into 3 pathological groups. When both gonads are streak gonads, the patient has a female phenotype and features of Turner syndrome (TS).

Prenatal diagnosis of 45,X/46,XY mosaicism—A review and ...

    https://obgyn.onlinelibrary.wiley.com/doi/abs/10.1002/pd.1970090106
    A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89·4 percent) were reported to be associated with a grossly normal male phenotype. Three cases (6·4 percent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads.Cited by: 86

Clinical aspects of 49 infertile males with 45,X/46,XY ...

    https://onlinelibrary.wiley.com/doi/abs/10.1111/and.13009
    Mar 12, 2018 · In 45,X/46,XY cases, both 45,X and 46,XY cell lines are seen. Various distributions of both cell lines can reflect a wide range of phenotypes that may be the most comprehensive evaluation in infertile males with 45,X/46,XY karyotype. It assumes that karyotyping as a main diagnostic test can enable us to find these rare cases.Cited by: 4



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