2012Chinese Journal of Birth Health & HeredityRequires access

Children′s chromosome with abnormal karyotypes and clinical analysis in Huzhou city

Shen Guo-son

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Abstract

Objective: Through the study of genetic counseling children′s chromosome with abnormal karyotypes characteristics,in order to provide a scientific basis for reducing the birth rate of children with chromosome disease of the region and improving population quality.Method: To analyze the chromosome karyotype of peripheral blood of the children who have the clinical manifestations of mental retardation,growth retardation,congenital malformation.Result: 93 cases were found abnormal chromosome karyotype,abnormal detection rate 38.43%;80 cases were autosomal abnormal karyotype,accounting for the total number of checks of 33.06%,accounting for abnormal number of 86.02%,13 cases were abnormal of the sex chromosome karyotype,accounting for the total number of checks of 5.37%,accounting for the number of abnormal of 13.98%.Conclusion: Chromosomal abnormalities is one important cause leading to children′s mental retardation,growth retardation,congenital malformations,or even death,strengthen health education and genetic counseling during pregnancy,further increase the intensity of prenatal screening and prenatal diagnosis,and continuously improve the diagnostic accuracy of chromosomal diseases,is an effective means to reduce the birth rate of chromosomal sick children and improve the quality of birth.

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Objective: Through the study of genetic counseling children′s chromosome with abnormal karyotypes characteristics,in order to provide a scientific basis for reducing the birth rate of children with chromosome disease of the region and improving population quality.Method: To analyze the chromosome karyotype of peripheral blood of the children who have the clinical manifestations of mental retardation,growth retardation,congenital malformation.Result: 93 cases were found abnormal chromosome karyotype,abnormal detection rate 38.43%;80 cases were autosomal abnormal karyotype,accounting for the total number of checks of 33.06%,accounting for abnormal number of 86.02%,13 cases were abnormal of the sex chromosome karyotype,accounting for the total number of checks of 5.37%,accounting for the number of abnormal of 13.98%.Conclusion: Chromosomal abnormalities is one important cause leading to children′s mental retardation,growth retardation,congenital malformations,or even death,strengthen health education and genetic counseling during pregnancy,further increase the intensity of prenatal screening and prenatal diagnosis,and continuously improve the diagnostic accuracy of chromosomal diseases,is an effective means to reduce the birth rate of chromosomal sick children and improve the quality of birth.

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Available abstract

Objective: Through the study of genetic counseling children′s chromosome with abnormal karyotypes characteristics,in order to provide a scientific basis for reducing the birth rate of children with chromosome disease of the region and improving population quality.Method: To analyze the chromosome karyotype of peripheral blood of the children who have the clinical manifestations of mental retardation,growth retardation,congenital malformation.Result: 93 cases were found abnormal chromosome karyotype,abnormal detection rate 38.43%;80 cases were autosomal abnormal karyotype,accounting for the total number of checks of 33.06%,accounting for abnormal number of 86.02%,13 cases were abnormal of the sex chromosome karyotype,accounting for the total number of checks of 5.37%,accounting for the number of abnormal of 13.98%.Conclusion: Chromosomal abnormalities is one important cause leading to children′s mental retardation,growth retardation,congenital malformations,or even death,strengthen health education and genetic counseling during pregnancy,further increase the intensity of prenatal screening and prenatal diagnosis,and continuously improve the diagnostic accuracy of chromosomal diseases,is an effective means to reduce the birth rate of chromosomal sick children and improve the quality of birth.

Key concepts: Karyotype, Genetic counseling, Chromosome, Medicine, Chromosome analysis, Prenatal diagnosis, Population, Pregnancy

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