A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure
Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a...
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| Format: | Article |
| Language: | English |
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Royan Institute (ACECR), Tehran
2013-07-01
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| Series: | International Journal of Fertility and Sterility |
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| Online Access: | http://www.ijfs.ir/article_45182_d41d8cd98f00b204e9800998ecf8427e.pdf |
| _version_ | 1818554923769397248 |
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| author | Mir Davood Omrani Soraya Saleh Gargari Faezeh Azizi |
| author_facet | Mir Davood Omrani Soraya Saleh Gargari Faezeh Azizi |
| author_sort | Mir Davood Omrani |
| collection | DOAJ |
| description | Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl with a history of irregular menstruation and high level of follicle-stimulating hormone (FSH) (151 mlU/mL) and luteinizing hormone (LH) (56 mlU/mL). In ultrasound examination, left ovarian gonad was atrophic without any follicles. Right ovarian gonad was not seen. Cytogenetical analysis was performed on the patient and her parents. Her karyotype results was 46, X, rcp (X; 9) (q24; q13) dn. Her parents had normal karyotype. This reciprocal translocation between chromosome X and 9 and observed POF in the patient suggest either the disruption of a critical gene expression due to 'position effect' or deletion of one or more POF-related genes in the disrupted long arm of the affected X chromosome. |
| first_indexed | 2024-12-12T09:46:26Z |
| format | Article |
| id | doaj.art-25efb42150934542b3ecdd2922434c4d |
| institution | Directory Open Access Journal |
| issn | 2008-076X 2008-0778 |
| language | English |
| last_indexed | 2024-12-12T09:46:26Z |
| publishDate | 2013-07-01 |
| publisher | Royan Institute (ACECR), Tehran |
| record_format | Article |
| series | International Journal of Fertility and Sterility |
| spelling | doaj.art-25efb42150934542b3ecdd2922434c4d2022-12-22T00:28:23ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782013-07-017213013345182A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian FailureMir Davood Omrani0Soraya Saleh Gargari1Faezeh Azizi2Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranObstetrics and Gynecology Unit, Mahdyeh Hospital, Shahid Beh eshti University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranPremature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl with a history of irregular menstruation and high level of follicle-stimulating hormone (FSH) (151 mlU/mL) and luteinizing hormone (LH) (56 mlU/mL). In ultrasound examination, left ovarian gonad was atrophic without any follicles. Right ovarian gonad was not seen. Cytogenetical analysis was performed on the patient and her parents. Her karyotype results was 46, X, rcp (X; 9) (q24; q13) dn. Her parents had normal karyotype. This reciprocal translocation between chromosome X and 9 and observed POF in the patient suggest either the disruption of a critical gene expression due to 'position effect' or deletion of one or more POF-related genes in the disrupted long arm of the affected X chromosome.http://www.ijfs.ir/article_45182_d41d8cd98f00b204e9800998ecf8427e.pdfpremature ovarian failuretranslocationamenorrhea |
| spellingShingle | Mir Davood Omrani Soraya Saleh Gargari Faezeh Azizi A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure International Journal of Fertility and Sterility premature ovarian failure translocation amenorrhea |
| title | A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure |
| title_full | A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure |
| title_fullStr | A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure |
| title_full_unstemmed | A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure |
| title_short | A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure |
| title_sort | de novo reciprocal x 9 translocation in a patient with premature ovarian failure |
| topic | premature ovarian failure translocation amenorrhea |
| url | http://www.ijfs.ir/article_45182_d41d8cd98f00b204e9800998ecf8427e.pdf |
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