Value of achievements in genetics in solving the problems of children with developmental disorders
The paper presents major achievements in medical genetics, which contribute to the identification of causes of developmental delay and mental retardation in children, to the enhancement of the efficiency of treatment in patients, and to the prevention of recurrences in a family. The widespread intro...
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2016-04-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
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| Online Access: | https://www.ped-perinatology.ru/jour/article/view/295 |
| Summary: | The paper presents major achievements in medical genetics, which contribute to the identification of causes of developmental delay and mental retardation in children, to the enhancement of the efficiency of treatment in patients, and to the prevention of recurrences in a family. The widespread introduction of molecular genetic techniques and the analysis of genotype-phenotype correlations in Rett syndrome, homocystinuria, and mitochondrial and other diseases give grounds to predict the course of an abnormality and to provide medical genetic counseling. The use of current methods for molecular karyotyping leads one to specify the nature of disease in previously undifferentiated developmental delays. The development of novel treatments, including drug, enzyme replacement, or substrate reduction therapies, for hereditary metabolic diseases, is certain to be an important achievement. |
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| ISSN: | 1027-4065 2500-2228 |