A case of supernumerary derivative chromosome 22 syndrome in a child
https://doi.org/10.23946/2500-0764-2023-8-2-141-146
Abstract
Here we describe a rare case of an abnormal karyotype with a supernumerary derivative chromosome der(22)t(11;22), associated with Emanuel syndrome, in a boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin of the anomaly from reciprocal translocation t(11;22) (q23;q11.2). At the time of the examination, the child had numerous anomalies of development, facial dysmorphia, and a small size of the external genitalia. In addition, there was a pronounced delay in psychomotor development because of the brain damage. We made an attempt to perform a comprehensive analysis of the risks to the patient's health by generalizing the cases of Emanuel syndrome described in the literature.
About the Authors
R. V. Olennikova
Kuzbass Regional Clinical Hospital
Russian Federation
Russian Federation
Mrs. Rimma V. Olennikova, geneticist, Head of Medical Genetics Counseling Unit
22, Oktyabr’skiy Prospect, Kemerovo, 650066
O. I. Rytenkova
Kuzbass Regional Clinical Hospital
Russian Federation
Russian Federation
Mrs. Oksana I. Rytenkova, Geneticist, Head of Medical Genetics Laboratory
22, Oktyabr’skiy Prospect, Kemerovo, 650066
A. N. Volkov
Kemerovo State Medical University
Russian Federation
Russian Federation
Dr. Alexey N. Volkov, PhD, Associate Professor, Department of Biology, Genetics, and Parasitology
22a, Voroshilova Street, Kemerovo, 650056
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Review
For citations:
Olennikova R.V., Rytenkova O.I., Volkov A.N. A case of supernumerary derivative chromosome 22 syndrome in a child. Fundamental and Clinical Medicine. 2023;8(2):141-146. (In Russ.) https://doi.org/10.23946/2500-0764-2023-8-2-141-146
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