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An Exhaustive Analysis of a Rare Case of Paternal Uniparental Isodisomy of Chromosome 16
https://doi.org/10.25557/2073-7998.2025.08.89-91
Abstract
Uniparental disomies (UPDs) are among the causes of imprinting disorders. Here, we describe the case of a patient, who presented syndromic phenotype, where anomalies in the methylation of the ZNF597 gene were detected by ONT sequencing. Our case demonstrates syndromic phenotype of a patient with paternal uniparental disomy of chromosome 16 as opposed to the previously described cases with a normal phenotype or with abnormal phenotypes caused by acquired homozygosity of pathogenic variants at autosomal recessive genes located on chromosome 16. Reporting such observations will help systematize data on the phenotypes of imprinting disorders in insufficiently studied imprinted regions, which include chromosome 16.
Keywords
imprinting disorders,
uniparental disomy,
chromosome 16,
microsatellite analysis,
chromosomal microarray analysis,
FISH,
WES,
MS-MLPA,
ONT
Supporting agencies: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation for RCMG
About the Authors
E. G. Panchenko
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University; Morozovskaya Children’s Clinical Hospital
Russian Federation
Russian Federation
Elizaveta G. Panchenko
1115522; 1, Moskvorechie st.; 117997; 1, Ostrovityanova st.; 119049; 1/9, 4th Dobryninskiy Per.; Moscow
N. A. Semenova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; Moscow
O. A. Sereda
Yaroslavl regional perinatal center
Russian Federation
Russian Federation
150042; 31v, Tutaevskoe shosse; Yaroslavl
D. M. Guseva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; Moscow
Z. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; Moscow
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; Moscow
O. A. Simonova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; Moscow
A. S. Smirnov
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; 117997; 1, Ostrovityanova st.; Moscow
D. V. Pustoshilov
Biotechnological Campus
Russian Federation
Russian Federation
117437; 16/10, Miklukho-Maklaya st.; Moscow
A. A. Halilova
Genomed medical center
Russian Federation
Russian Federation
105005; 50/12, b.1, Baumanskaya st.; Moscow
V. Yu. Udalova
Genomed medical center
Russian Federation
Russian Federation
105005; 50/12, b.1, Baumanskaya st.; Moscow
I. V. Kanivets
Genomed medical center
Russian Federation
Russian Federation
105005; 50/12, b.1, Baumanskaya st.; Moscow
D. V. Zaletaev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; Moscow
V. V. Strelnikov
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
1115522; 1, Moskvorechie st.; 117997; 1, Ostrovityanova st.; Moscow
References
1. Kohlhase J., Janssen B., Weidenauer K., Harms K., Bartels I. First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet. 2000;91(3):190-1.
2. Zhang X., Liu L., Liu Y., Pan X. Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype. Front Pediatr. 2021;9:732645.
3. Inoue T., Yagasaki H., Nishioka J., et al. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2019;56(6):413-418. doi: 10.1136/jmedgenet-2018-105463
Review
For citations:
Panchenko E.G., Semenova N.A., Sereda O.A., Guseva D.M., Markova Z.G., Shilova N.V., Simonova O.A., Smirnov A.S., Pustoshilov D.V., Halilova A.A., Udalova V.Yu., Kanivets I.V., Zaletaev D.V., Strelnikov V.V. An Exhaustive Analysis of a Rare Case of Paternal Uniparental Isodisomy of Chromosome 16. Medical Genetics. 2025;24(8):89-91. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.89-91
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