Taiwanese journal of obstetrics & gynecology · 2025
A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Okubo Haruna, Ito Yuki, Kawai Tomoko, Kamura Hiromi, Yamamura Michihiro, Kaneko Mikiko, Hasegawa Akihiro, Takahashi Ken, Kobayashi Masahisa, Kawame Hiroshi, Hata Kenichiro, Samura Osamu, Okamoto Aikou
Аннотация
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 external genitalia. The stored CVS nuclear plate was reanalyzed to investigate the cause of the fetal sex discordance. The result showed a mosaic of a small supernumerary marker chromosome (sSMC) derived from Y chromosome. The infant was delivered vaginally at 39 weeks. Peripheral blood G-banding and fluorescence in situ hybridization for the infant indicated 47,XX, +mar [27]/46,XX [3] ish der(Y) (SRY+,DYZ1-). Single nucleotide polymorphism analysis of cord blood and chorionic villi revealed a deletion in chrY: 13,133,449-28,817,579. The infant was phenotypically male, with good growth and development at 24 months.
CONCLUSION: The fetal sex discordance led to a diagnosis of 46,XX/47,XXY mosaicism, which could guide postnatal management.
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 external genitalia. The stored CVS nuclear plate was reanalyzed to investigate the cause of the fetal sex discordance. The result showed a mosaic of a small supernumerary marker chromosome (sSMC) derived from Y chromosome. The infant was delivered vaginally at 39 weeks. Peripheral blood G-banding and fluorescence in situ hybridization for the infant indicated 47,XX, +mar [27]/46,XX [3] ish der(Y) (SRY+,DYZ1-). Single nucleotide polymorphism analysis of cord blood and chorionic villi revealed a deletion in chrY: 13,133,449-28,817,579. The infant was phenotypically male, with good growth and development at 24 months.
CONCLUSION: The fetal sex discordance led to a diagnosis of 46,XX/47,XXY mosaicism, which could guide postnatal management.