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Molecular cytogenetic characterization of a derivative X chromosome in a girl with abnormal phenotype
https://doi.org/10.25557/2073-7998.2025.09.78-80
Abstract
The study provides a comprehensive molecular cytogenetic characterization of a de novo derivative X chromosome exhibiting a terminal deletion of the short arm and a terminal duplication of the long arm in a female patient presenting with an abnormal phenotype. The potential mechanisms that may underlie the formation of this chromosomal abnormality, as well as the contribution of chromosomal imbalance in clinical manifestations, are discussed.
Supporting agencies: The research was supported by research project No. 122032300370-1 «Study of structural and functional features and mechanisms of formation of chromosomal abnormalities and genomic imbalance».
About the Authors
A. Y. Meglei
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Meglei Anastasiia Yurevna
1, Moskvorechye st., Moscow, 115522
N. Y. Kuzina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
N. B. Kuryakova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
References
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2. Lachlan K.L., Youings S., Costa T. et al. A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. Hum Genet. 2006;118(5):640-51.
3. Vasquez A.I., Rivera H., Bobadilla L. et al. A familial Xp+ chromosome, dup (Xq26.3-->qter). J Med Genet. 1995;32(11):891-3.
4. Lin Q., Liang C., Du B. et al. Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review. BMC Med Genomics. 2024;17(1):57.
Review
For citations:
Meglei A.Y., Kuzina N.Y., Kuryakova N.B., Shilova N.V. Molecular cytogenetic characterization of a derivative X chromosome in a girl with abnormal phenotype. Medical Genetics. 2025;24(9):78-80. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.78-80
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