45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype
نویسندگان
چکیده
منابع مشابه
A patient with 45XO-48XYYY mosaicism.
Many cases of chromosomal mosaicism of the XO/XY type have been described. The phenotype of these patients has shown a wide diversity. In a recent review of 19 published cases in which the XO/XY sex chromosome pattern was established (Jackson, Hoffman, and Makda, 1966), 14 were apparently female and 5 male. The occurrence of XO/XYY mosaicism has been reported less often. Jacobs, Harnden, Buckto...
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INTRODUCTION We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X ...
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Background: Association of Addison's disease with connective tissue diseases such as scleroderma and Sjogren have been rarely reported. Anti-centromere antibody (ACA) has been associated with exocrine gland dysfunction in anti-Ro, anti-La negative Sjogren’s syndrome and may be one of the causes of xerostomia in community. The purpose of this article was to introduce a rare case of scleroderma-S...
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Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a ...
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ژورنال
عنوان ژورنال: Case Reports in Medicine
سال: 2019
ISSN: 1687-9627,1687-9635
DOI: 10.1155/2019/2529080