CASE REPORT: A DE NOVO RECIPROCAL X; 9 TRANSLOCATION IN A PATIENT WITH PREMATURE OVARIAN FAILURE

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OMRANI MIRDAVOUD; SALEH GARGARI SORAYA; AZIZI FAEZEH

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Journal Paper

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Journal: International Journal of Fertility & Sterility Year:2013 | Volume:7 | Issue:2 Page(s): 130-133

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Title

CASE REPORT: A DE NOVO RECIPROCAL X; 9 TRANSLOCATION IN A PATIENT WITH PREMATURE OVARIAN FAILURE

Author(s)

OMRANI MIRDAVOUD | SALEH GARGARI SORAYA | AZIZI FAEZEH | Issue Writer Certificate

Keywords

PREMATURE OVARIAN FAILURE

TRANSLOCATION

AMENORRHEA

Abstract

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.

Cites

A RARE DE NOVO BALANCED X, 1 TRANSLOCATION IN AN INDIAN FEMALE WITH PRIMARY AMENORRHEA (CASE REPORT)

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APA: Copy

OMRANI, MIRDAVOUD, SALEH GARGARI, SORAYA, & AZIZI, FAEZEH. (2013). CASE REPORT: A DE NOVO RECIPROCAL X; 9 TRANSLOCATION IN A PATIENT WITH PREMATURE OVARIAN FAILURE. INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY, 7(2), 130-133. SID. https://sid.ir/paper/305410/en

Vancouver: Copy

OMRANI MIRDAVOUD, SALEH GARGARI SORAYA, AZIZI FAEZEH. CASE REPORT: A DE NOVO RECIPROCAL X; 9 TRANSLOCATION IN A PATIENT WITH PREMATURE OVARIAN FAILURE. INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY[Internet]. 2013;7(2):130-133. Available from: https://sid.ir/paper/305410/en

IEEE: Copy

MIRDAVOUD OMRANI, SORAYA SALEH GARGARI, and FAEZEH AZIZI, “CASE REPORT: A DE NOVO RECIPROCAL X; 9 TRANSLOCATION IN A PATIENT WITH PREMATURE OVARIAN FAILURE,” INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY, vol. 7, no. 2, pp. 130–133, 2013, [Online]. Available: https://sid.ir/paper/305410/en

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