Genomic imbalance in a patient with two balanced translocations and abnormal phenotype
https://doi.org/10.25557/2073-7998.2021.10.40-43
Abstract
The results of clinical and molecular genetic study of the patient with psychomotor delay, phenotype abnormalities and multiple congenital malformations of systems and organs are presented. A standard cytogenetic study determined a double translocation between chromosomes 2 and 6 and chromosomes 7 and 11, confirmed by the FISH method. Chromosomal microarray analysis revealed a deletion of 6q14.1 region at the break point on the long arm of chromosome 6. The deletion involves several dozen genes, including PHIP, FILIP1, MYO6, HTR1B, IMPG1, EVOLV4, TENT5A genes, which are most likely associated with clinical symptoms in the patient.
About the Authors
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Z. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. F. Murtazina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. ISCN 2020. An International System for Human Cytogenomic Nomenclature (2020) Editor(s): McGowan-Jordan J., Hastings R. J., Moore S., Karger. 2020; 503. Reprint of: Cytogenetic and Genome Research 2020; 160(7-8).
2. Van Esch H., Rosser E.M. et al. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. J Med Genet. 2010; 47: 717-720.
3. Lespinasse J., Gimelli S. et al. Characterization of an interstitial deletion 6q13- q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms. Eur J Med Genet. 2009; 52: 49-52.
4. Becker K., Di Donato N., et al. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability-further delineation of the 6q14 microdeletion syndrome and review of the literature. Eur J Med Genet. 2012; 55: 490-497.
5. Webster E., Cho M.T., Alexander N., et al. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016; 2(6): a001172.
6. Jansen S., Hoischen A., et al: A genotype-first approach identifies an intellectual disabilityoverweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018; 26: 54-63.
Review
For citations:
Minzhenkova M.E., Markova Z.G., Murtazina A.F., Shilova N.V. Genomic imbalance in a patient with two balanced translocations and abnormal phenotype. Medical Genetics. 2021;20(10):40-43. (In Russ.) https://doi.org/10.25557/2073-7998.2021.10.40-43
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