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The crucial role of SRY gene in the determination of human genetic sex: 46,XX disorder of sex development.

Authors: Cristina Crenguţa, Albu; Dinu Florin, Albu; Ana Roxana, Muşat; Ioana Georgeta, Stancu; Ştefan Dimitrie, Albu; Anca, Pătraşcu; Alexandru Marian, Gogănău;

The crucial role of SRY gene in the determination of human genetic sex: 46,XX disorder of sex development.

Abstract

Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to occur in 1∕2500 pregnancies. A group of DSDs are the 46,XX testicular DSD. Today, the incidence of 46,XX testicular DSD is estimated at 1∕20 000 newborn males. A majority of males with DSD have an unbalanced X;Y exchange involving the pseudoautosomal region, with translocation of the sex-determining region of the Y (SRY) gene onto Xp23.3. We present a rare case of very early prenatal diagnosis and management of a fetus with SRY-positive 46,XX testicular DSD.

Keywords

Adult, Genetic Markers, Male, 46, XX Disorders of Sex Development, Karyotype, Sex Determination Processes, Fetus, Humans, Female, Genes, sry

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
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