45,X/46,XY/47,XY, +21 mosaicism in a hypogonadal phenotypic male.
نویسندگان
چکیده
منابع مشابه
XO/XY mosaicism in phenotypic males.
Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.
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The occurrence of 46,XX/47,XX,+21 mosaicism in two successive generations implies an aetiological relationship between the 47,XX,+21 cell line of the mother and her daughter.
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Mosaic trisomy 8 is a relatively common chromosomal abnormality, which shows a great variability in clinical expression, however cases with phenotypic abnormalities tend to present with a distinct, recognizable clinical syndrome with a characteristic facial appearance, a long, slender trunk, limitation of movement in multiple joints, and mild-to-moderate mental retardation; the deep plantar fur...
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Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome* Summary. Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome. Trisomy 21 Down's syndrome associated with maternal mosaicism was first described by Smith et al in 1962. Since then there have been at ...
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Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1980
ISSN: 1468-6244
DOI: 10.1136/jmg.17.4.319