A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.

Ana Paula Francese-Santos,Jakob A Meinel, Cristiane S C Piveta,Juliana G R Andrade,Beatriz A Barros,Helena Fabbri-Scallet,Vera Lúcia Gil-da-Silva-Lopes,Gil Guerra-Junior,Axel Künstner,Hauke Busch,Olaf Hiort,Maricilda P de Mello,Ralf Werner,Andréa T Maciel-Guerra

International journal of molecular sciences（2023）

Cited 1|Views37

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Abstract

A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.2 upstream of initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of , and partially , upstream of . This is the first description of an Xp21.2 duplication upstream of associated with 46,XY partial gonadal dysgenesis.

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Key words

46,XY partial gonadal dysgenesis,NR0B1,Xp21.2 duplication,chromosome microarray analysis,disorders of sex development,whole-genome sequencing

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