The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a cfinical science from the very beginning. Its robust development ...The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a cfinical science from the very beginning. Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics. In China, however, clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties. This is in marked contrast to the situation in the West. It is high time to acknowledge that medical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.展开更多
Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome ...Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification,and if specific staining for certain portions of the chromosome was necessary,C banding was used.The clinical data were recorded by physical examination and ultrasound scanning.Results Karyotype analysis of the 340 patients revealed that 180(52.94%) patients had normal female karyotypes and 160(47.06%) patients had abnormal karyotypes.The abnormal karyotypes included abnormal X chromosome(150 patients),mosaic X-Y chromosome(4 patients),abnormal autosome(5 patients),and X-autosome translocation(1 patient).The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus(95.9%),invisible secondary sex features(68.8%),little or absent ovary(62.6%),and short stature(30.0%).The incidence of short stature in patients with X chromosome aberration(46%,69/150) was significangly higher that in patients with 46,XX(9.44%,17/180) as well as 46,XY(6.67%,3/45;χ2=146.25,P=0.000).All primary amenorrhea patients with deletion or break-point at Xp11.1-11.4 were short statures.Conclusions One of the main reasons of primary amenorrhea is choromosome abnormality,especially heterosome abnormality.It implies the need to routinely screen chromosomal anomalies for such patients.There might be relationship between Xp11.1-11.4 integrity and height improvement.展开更多
文摘The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a cfinical science from the very beginning. Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics. In China, however, clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties. This is in marked contrast to the situation in the West. It is high time to acknowledge that medical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.
文摘Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification,and if specific staining for certain portions of the chromosome was necessary,C banding was used.The clinical data were recorded by physical examination and ultrasound scanning.Results Karyotype analysis of the 340 patients revealed that 180(52.94%) patients had normal female karyotypes and 160(47.06%) patients had abnormal karyotypes.The abnormal karyotypes included abnormal X chromosome(150 patients),mosaic X-Y chromosome(4 patients),abnormal autosome(5 patients),and X-autosome translocation(1 patient).The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus(95.9%),invisible secondary sex features(68.8%),little or absent ovary(62.6%),and short stature(30.0%).The incidence of short stature in patients with X chromosome aberration(46%,69/150) was significangly higher that in patients with 46,XX(9.44%,17/180) as well as 46,XY(6.67%,3/45;χ2=146.25,P=0.000).All primary amenorrhea patients with deletion or break-point at Xp11.1-11.4 were short statures.Conclusions One of the main reasons of primary amenorrhea is choromosome abnormality,especially heterosome abnormality.It implies the need to routinely screen chromosomal anomalies for such patients.There might be relationship between Xp11.1-11.4 integrity and height improvement.
