2006Chinese Journal of Birth Health & HeredityRequires access

Analysis of chromosomal karyotypes in 1068 cases of genetic counseling

Tao Zhi-hu

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Abstract

Objective:To investigate the characteristic and significance of chromosome changes in patients with mental retardation,sexual development abnormity,primary amenorrhea and spontaneous abortion and stillbirth history.Methods: Routine culture for the peripheral blood lymphocytes were made and G,C band were analysed.Results: There are 171 abnormal karyotypes in 1068 cases(16.01%),include 69 in 140 sexual development abnormity patients(49.29%),30 in 75 primary amenorrhea patients(40.00%),8 in 30 mental retardation patients,54 abnormal karyotypes in 634 spontaneous abortion and stillbirth history patients.Among 171 abnormal karyotypes,71 cases of sex chromosome abnormalities,44 cases of euchromosome abnormailities and 47cases of polymorphism were found.Conclusion:The detection rates is very high in genetic counselees and there is a close relationship between abnormal karyotypes of chromosome and the diseases.Cytogenetics decetion is necessary for inquirers on heredity in fundamental hospital,it can be helpful for prenatal diagnosis and eugenic.

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Objective:To investigate the characteristic and significance of chromosome changes in patients with mental retardation,sexual development abnormity,primary amenorrhea and spontaneous abortion and stillbirth history.Methods: Routine culture for the peripheral blood lymphocytes were made and G,C band were analysed.Results: There are 171 abnormal karyotypes in 1068 cases(16.01%),include 69 in 140 sexual development abnormity patients(49.29%),30 in 75 primary amenorrhea patients(40.00%),8 in 30 mental retardation patients,54 abnormal karyotypes in 634 spontaneous abortion and stillbirth history patients.Among 171 abnormal karyotypes,71 cases of sex chromosome abnormalities,44 cases of euchromosome abnormailities and 47cases of polymorphism were found.Conclusion:The detection rates is very high in genetic counselees and there is a close relationship between abnormal karyotypes of chromosome and the diseases.Cytogenetics decetion is necessary for inquirers on heredity in fundamental hospital,it can be helpful for prenatal diagnosis and eugenic.

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Available abstract

Objective:To investigate the characteristic and significance of chromosome changes in patients with mental retardation,sexual development abnormity,primary amenorrhea and spontaneous abortion and stillbirth history.Methods: Routine culture for the peripheral blood lymphocytes were made and G,C band were analysed.Results: There are 171 abnormal karyotypes in 1068 cases(16.01%),include 69 in 140 sexual development abnormity patients(49.29%),30 in 75 primary amenorrhea patients(40.00%),8 in 30 mental retardation patients,54 abnormal karyotypes in 634 spontaneous abortion and stillbirth history patients.Among 171 abnormal karyotypes,71 cases of sex chromosome abnormalities,44 cases of euchromosome abnormailities and 47cases of polymorphism were found.Conclusion:The detection rates is very high in genetic counselees and there is a close relationship between abnormal karyotypes of chromosome and the diseases.Cytogenetics decetion is necessary for inquirers on heredity in fundamental hospital,it can be helpful for prenatal diagnosis and eugenic.

Key concepts: Karyotype, Genetic counseling, Abortion, Heredity, Amenorrhea, Chromosome analysis, Gynecology, Primary amenorrhea

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