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A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome

Objective: Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome. Case report: Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype. However, ultrasonography revealed male-type e...

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Uloženo v:
Hlavní autoři: Haruna Okubo, Yuki Ito, Tomoko Kawai, Hiromi Kamura, Michihiro Yamamura, Mikiko Kaneko, Akihiro Hasegawa, Ken Takahashi, Masahisa Kobayashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2025-07-01
Edice:Taiwanese Journal of Obstetrics & Gynecology
Témata:
Chorionic villus sampling
Klinefelter syndrome
Mosaicism
Prenatal diagnosis
Sex chromosome aberrations
On-line přístup:http://www.sciencedirect.com/science/article/pii/S1028455925001408
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