中華民國小兒科醫學會第137屆學術演講會教育演講：先天性畸形－智障學童染色體篩檢及其追蹤研究

Continuing Medical Education The 137th Scientific Meeting of the Chinese Taipei Pediatric Association Continuing Medical Education: Congenital Anomalies in Taiwan-A Cytogenetic Study of Mentally Retar

武光東(Kuang-Dong Wuu)

《Acta Paediatrica Sinica》 35卷s_1期 (1994/04) Pp. 15-22

https://doi.org/10.7097/APS.199404.0015

摘要

This report summarizes the cytogenetic screening results of 2,353 mentally retarded school children conducted in the past 15 years through three research projects. The first project (1977-1981) was aimed at identifying the chromosome abnormalities from the 470 mentally retarded patients. The incidence of chromosome abnormalities, ranged from 6.12% to 13.86%, was correlated with the severity of the mental retardation. The second project (1988-1990) was mainly a pilot study for establishing newborn screening method of metabolic diseases. The chromosome analysis was carried out as a by-product because of the availability of blood samples. Of the 1,323 patients examined, the incidence of chromosome abnormalities was also correlated with IQ, with 7.87% for IQ 50-75 and 17.51% for IQ less than 50. The third project (1989-1992) was designed for the detection of fragile X patients and their relatives for the purpose of molecular analysis of the FMR-1 gene expression. We found 18 patients with fragile sites at Xq27.3 and 65 patients (11.6%) with other chromosome abnormalities. A follow-up study and genetic counseling were carried out for three fragile X probands and their relatives. Dried blood samples on filter papers from a family of six with three fragile X boys were analyzed by RT-PCR method. The three male patients did not express any appreciable amounts of FMR-1 transcripts, while their parents and sister were positive for the FMR-1 specific band. This assay may be applied for the mass screening of fragile X patients from the mentally retarded populations.

並列摘要

This report summarizes the cytogenetic screening results of 2,353 mentally retarded school children conducted in the past 15 years through three research projects. The first project (1977-1981) was aimed at identifying the chromosome abnormalities from the 470 mentally retarded patients. The incidence of chromosome abnormalities, ranged from 6.12% to 13.86%, was correlated with the severity of the mental retardation. The second project (1988-1990) was mainly a pilot study for establishing newborn screening method of metabolic diseases. The chromosome analysis was carried out as a by-product because of the availability of blood samples. Of the 1,323 patients examined, the incidence of chromosome abnormalities was also correlated with IQ, with 7.87% for IQ 50-75 and 17.51% for IQ less than 50. The third project (1989-1992) was designed for the detection of fragile X patients and their relatives for the purpose of molecular analysis of the FMR-1 gene expression. We found 18 patients with fragile sites at Xq27.3 and 65 patients (11.6%) with other chromosome abnormalities. A follow-up study and genetic counseling were carried out for three fragile X probands and their relatives. Dried blood samples on filter papers from a family of six with three fragile X boys were analyzed by RT-PCR method. The three male patients did not express any appreciable amounts of FMR-1 transcripts, while their parents and sister were positive for the FMR-1 specific band. This assay may be applied for the mass screening of fragile X patients from the mentally retarded populations.