L. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, K. V. Savostyanov, A. A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan
{"title":"染色体分裂综合征22 (22q11.2)的早期诊断和治疗算法","authors":"L. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, K. V. Savostyanov, A. A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan","doi":"10.15690/vsp.v16i5.1803","DOIUrl":null,"url":null,"abstract":"Chromosomal diseases, in particular microdeletions, determine the child's condition as well as the prognosis for a disease even at birth. With timely identified chromosomal abnormalities, we can diagnose not only obvious but also hidden disorders in the organs and their systems and timely correct the child's treatment at an early age. The algorithm for diagnosis of chromosomal abnormalities in children is an important component of a modern pediatric practice. It allows to increase the effectiveness of chromosomal pathology treatment.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"47 1","pages":"392-398"},"PeriodicalIF":0.0000,"publicationDate":"2017-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"АЛГОРИТМ РАННЕЙ ДИАГНОСТИКИ И ЛЕЧЕНИЯ СИНДРОМА ДЕЛЕЦИИ ХРОМОСОМЫ 22 (22q11.2)\",\"authors\":\"L. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, K. V. Savostyanov, A. A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan\",\"doi\":\"10.15690/vsp.v16i5.1803\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Chromosomal diseases, in particular microdeletions, determine the child's condition as well as the prognosis for a disease even at birth. With timely identified chromosomal abnormalities, we can diagnose not only obvious but also hidden disorders in the organs and their systems and timely correct the child's treatment at an early age. The algorithm for diagnosis of chromosomal abnormalities in children is an important component of a modern pediatric practice. It allows to increase the effectiveness of chromosomal pathology treatment.\",\"PeriodicalId\":10919,\"journal\":{\"name\":\"Current Paediatrics\",\"volume\":\"47 1\",\"pages\":\"392-398\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-11-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Paediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15690/vsp.v16i5.1803\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Paediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15690/vsp.v16i5.1803","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
АЛГОРИТМ РАННЕЙ ДИАГНОСТИКИ И ЛЕЧЕНИЯ СИНДРОМА ДЕЛЕЦИИ ХРОМОСОМЫ 22 (22q11.2)
Chromosomal diseases, in particular microdeletions, determine the child's condition as well as the prognosis for a disease even at birth. With timely identified chromosomal abnormalities, we can diagnose not only obvious but also hidden disorders in the organs and their systems and timely correct the child's treatment at an early age. The algorithm for diagnosis of chromosomal abnormalities in children is an important component of a modern pediatric practice. It allows to increase the effectiveness of chromosomal pathology treatment.