E-viri
Recenzirano
Odprti dostop
-
Francese-Santos, Ana Paula; Meinel, Jakob A; Piveta, Cristiane S C; Andrade, Juliana G R; Barros, Beatriz A; Fabbri-Scallet, Helena; Gil-da-Silva-Lopes, Vera Lúcia; Guerra-Junior, Gil; Künstner, Axel; Busch, Hauke; Hiort, Olaf; de Mello, Maricilda P; Werner, Ralf; Maciel-Guerra, Andréa T
International journal of molecular sciences, 12/2022, Letnik: 24, Številka: 1Journal Article
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.
