A NEWBORN WITH AMBIGUOUS GENITALIA AND A COMPLEX X, Y REARRANGEMENT (CASE REPORT)

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DEHGHANI MOHAMMADREZA; ROSSI ELENA; VETRO ANNALISA; RUSSO GIANNI; HASHEMIAN ZAHRA; ZUFFARDI ORSETTA

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Journal Paper

Paper Information

Journal: International Journal of Reproductive BioMedicine Year:2014 | Volume:12 | Issue:5 Page(s): 351-356

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Title

A NEWBORN WITH AMBIGUOUS GENITALIA AND A COMPLEX X, Y REARRANGEMENT (CASE REPORT)

Author(s)

Keywords

AMBIGUOUS GENITALIA

XX TESTICULAR DSD

INVERTED DUPLICATION AND XP TERMINAL DELETION (INVDUP DEL)

REARRANGEMENT

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION

FISH

Abstract

Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females.Case: Here we report an interesting case characterized by AMBIGUOUS GENITALIA and ovotestis in a newborn carrying an apparently female karyotype (46 XX). ARRAY COMPARATIVE GENOMIC HYBRIDIZATION (Array-CGH) revealed an unbalanced REARRANGEMENT resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated.Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity.

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APA: Copy

DEHGHANI, MOHAMMADREZA, ROSSI, ELENA, VETRO, ANNALISA, RUSSO, GIANNI, HASHEMIAN, ZAHRA, & ZUFFARDI, ORSETTA. (2014). A NEWBORN WITH AMBIGUOUS GENITALIA AND A COMPLEX X, Y REARRANGEMENT (CASE REPORT). INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE), 12(5), 351-356. SID. https://sid.ir/paper/296283/en

Vancouver: Copy

DEHGHANI MOHAMMADREZA, ROSSI ELENA, VETRO ANNALISA, RUSSO GIANNI, HASHEMIAN ZAHRA, ZUFFARDI ORSETTA. A NEWBORN WITH AMBIGUOUS GENITALIA AND A COMPLEX X, Y REARRANGEMENT (CASE REPORT). INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE)[Internet]. 2014;12(5):351-356. Available from: https://sid.ir/paper/296283/en

IEEE: Copy

MOHAMMADREZA DEHGHANI, ELENA ROSSI, ANNALISA VETRO, GIANNI RUSSO, ZAHRA HASHEMIAN, and ORSETTA ZUFFARDI, “A NEWBORN WITH AMBIGUOUS GENITALIA AND A COMPLEX X, Y REARRANGEMENT (CASE REPORT),” INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE), vol. 12, no. 5, pp. 351–356, 2014, [Online]. Available: https://sid.ir/paper/296283/en

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