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

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VENKATESHWARI ANANTHAPUR; SRILEKHA AVVARI; VEENA KOKA; SUJATHA MADIREDDY; JYOTHY AKKA

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Journal: Journal of Reproduction & Infertility Year:2015 | Volume:16 | Issue:3 Page(s): 171-173

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Title

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

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Keywords

ABNORMAL KARYOTYPE

BALANCED X AUTOSOME TRANSLOCATION

GONADAL DYSGENESIS

PRIMARY AMENORRHEA

Abstract

Background: Translocations involving X chromosome and an autosome are rather rare due to associated infertility in men and subfertility in women. X chromosome translocations are frequently associated with primary or secondary amenorrhea. In this report, a case of PRIMARY AMENORRHEA with a de novo balanced reciprocal translocation was presented between chromosomes X and 1.Case Presentation: A 24 year-old proposita with the complaint of PRIMARY AMENORRHEA was found to have hypoplastic uterus and streak gonads with a normal hormonal profile. Chromosomal analysis of the proband revealed a de novo translocation of 46, X, t (X; 1) (q21; p32) chromosomal constitution. Parental karyotypes of the proband showed normal karyotype.Conclusion: The observed translocation between chromosome X and 1 in the patient suggest either the disruption of a critical gene expression due to position effect or deletion of one or more essential genes in the disrupted long arm of the affected X chromosome. To the best of our knowledge, this is the first report from our ethnic group.

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APA: Copy

VENKATESHWARI, ANANTHAPUR, SRILEKHA, AVVARI, VEENA, KOKA, SUJATHA, MADIREDDY, & JYOTHY, AKKA. (2015). A RARE DE NOVO BALANCED X, 1 TRANSLOCATION IN AN INDIAN FEMALE WITH PRIMARY AMENORRHEA (CASE REPORT). JOURNAL OF REPRODUCTION AND INFERTILITY, 16(3), 171-173. SID. https://sid.ir/paper/656353/en

Vancouver: Copy

VENKATESHWARI ANANTHAPUR, SRILEKHA AVVARI, VEENA KOKA, SUJATHA MADIREDDY, JYOTHY AKKA. A RARE DE NOVO BALANCED X, 1 TRANSLOCATION IN AN INDIAN FEMALE WITH PRIMARY AMENORRHEA (CASE REPORT). JOURNAL OF REPRODUCTION AND INFERTILITY[Internet]. 2015;16(3):171-173. Available from: https://sid.ir/paper/656353/en

IEEE: Copy

ANANTHAPUR VENKATESHWARI, AVVARI SRILEKHA, KOKA VEENA, MADIREDDY SUJATHA, and AKKA JYOTHY, “A RARE DE NOVO BALANCED X, 1 TRANSLOCATION IN AN INDIAN FEMALE WITH PRIMARY AMENORRHEA (CASE REPORT),” JOURNAL OF REPRODUCTION AND INFERTILITY, vol. 16, no. 3, pp. 171–173, 2015, [Online]. Available: https://sid.ir/paper/656353/en

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