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

Iranian journal of reproductive medicine

VETRO ANNALISA¹  ROSSI ELENA¹  ZUFFARDI ORSETTA¹  HASHEMIAN ZAHRA¹  DEHGHANI MOHAMMADREZA¹  RUSSO GIANNI¹ 

关键词: AMBIGUOUS GENITALIA;    46;    XX TESTICULAR DSD;    INVERTED DUPLICATION AND XP TERMINAL DELETION (INVDUP DEL);    REARRANGEMENT;    ARRAY COMPARATIVE GENOMIC HYBRIDIZATION;    FISH;   

DOI  :  

学科分类：药学、药理学、毒理学（综合）

来源: Shahid Sadoughi University of Medical Sciences, Yazd

【 摘 要 】

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.

【 授权许可】

Unknown