Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

Most cases of Klinefelter syndrome (KS) have 47,XXY karyotype. We reported the first case of 46,XX/47,XXY KS whose genital ambiguity was detected prenatally with postnatal confirmation of the mosaicism and ovotesticular disorder of sex development (OT-DSD). The paternal origin of the extra X chromos...

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Bibliografiske detaljer
Udgivet i:J Pediatr Genet
Main Authors: Tangshewinsirikul, Chayada, Dulyaphat, Wirada, Tim-Aroon, Thipwimol, Parinayok, Rachanee, Chareonsirisuthigul, Takol, Korkiatsakul, Veerawat, Waisayarat, Jariya, Sirisreetreerux, Pokket, Tingthanatikul, Yada, Wattanasirichaigoon, Duangrurdee
Format: Artigo
Sprog:Inglês
Udgivet: Georg Thieme Verlag KG 2020
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7384885/
https://ncbi.nlm.nih.gov/pubmed/32733741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1713002
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