45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea: A Case Report

Lau, Eunice Yi Chwen; Fung, Yin Khet

doi:10.15605/jafes.035.01.19

JAFES

2020

DOI: 10.15605/jafes.035.01.19

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45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea: A Case Report

Eunice Yi Chwen Lau

Yin Khet Fung

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2024

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SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development

Brewer,

Coyan,

Smith

et al. 2024

Molec Gen & Gen Med

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BackgroundWhen the SRY gene is present in a 46,XX fetus, some degree of testicular development is expected. Our laboratory performed prenatal genetic testing for a fetus that had screened positive for Y chromosome material by noninvasive prenatal screening (NIPS) but that had apparently typical female development by ultrasound imaging. The aim of this study was to determine the clinical relevance of the NIPS results.MethodsWe analyzed fetal material obtained via amniocentesis procedure by G‐banding, microarray, and fluorescence in situ hybridization (FISH). Optical genome mapping (OGM) was also performed.ResultsG‐band analysis revealed a normal 46,XX karyotype. Microarray and FISH analyses together detected an SRY+ gain of 5.7 Mb from terminal Yp that was translocated to terminal Xq, with a loss of 1.6 Mb from terminal Xq. The final karyotype was 46,X,der(X)t(X;Y)(q28;p11.2). Prenatal ultrasound and postnatal physical examination revealed apparently typical female genitalia. The Xq deletion encompassed a gene, IKBKG, that is sensitive to loss of function, suggesting that preferential inactivation of the derivative X chromosome allowed for typical female development. OGM software did not directly identify this translocation.ConclusionThis case demonstrates how the SRY gene may be present in a 46,XX biological female without differences of sexual development.

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SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development

Brewer,

Coyan,

Smith

et al. 2024

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

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45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea: A Case Report

Cited by 1 publication

References 18 publications

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development

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