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

Autor: Brewer CJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Coyan AG; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Smith N; Seton Center, Good Samaritan Hospital, TriHealth Hospital Systems, Cincinnati, Ohio, USA., Jones B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Smolarek TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Liu J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70033.
DOI: 10.1002/mgg3.70033
Abstrakt: Background: When 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.
Methods: We analyzed fetal material obtained via amniocentesis procedure by G-banding, microarray, and fluorescence in situ hybridization (FISH). Optical genome mapping (OGM) was also performed.
Results: G-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.
Conclusion: This case demonstrates how the SRY gene may be present in a 46,XX biological female without differences of sexual development.
(© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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