Swyer Syndrome in Phenotypic Female with 46,XY Karyotype
| Autor: | D Prashanth Shetty, Meenakshi Arumugam, Jayarama S Kadandale, Suchetha Kumari |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 12, Iss 11, Pp GD01-GD03 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2249-782X 0973-709X |
| DOI: | 10.7860/JCDR/2018/36772.12242 |
| Popis: | Individuals with Swyer syndrome have an XY karyotype and are phenotypically female. The prevalence of Swyer Syndrome is about 1 in 30,000 and it is an extremely rare condition. The present study aimed to describe the phenotypic and genotypic variations of two patients with Swyer syndrome. Case 1: A 24-year-old female who presented with primary amenorrhea, infertility with increased FSH level (59.91 mLU/mL) and Case 2: A 29-year-old female with primary infertility was referred. A 2 mL of peripheral blood was drawn for karyotyping. Cytogenetic analysis was carried out using standard GTG banding technique. Cytogenetic analysis revealed a 46,XY karyotype in Case 1 and 46,XY,15cenh+ in Case 2. Q-Banding confirmed the presence of Y chromosome. In addition, Fluorescence In Situ Hybridization (FISH) using CEP X and Y probe and LSI SRY/CEPX probe confirmed the presence of SRY on the Y chromosome. The result showed the presence of sex-determining region of the Y chromosome and also validating the cytogenetic and molecular cytogenetic interpretations. Earlier diagnosis is important and karyotyping is mandatory in these cases. |
| Databáze: | Directory of Open Access Journals |
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