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7 results

DNA Testing for Fragile X Syndrome in School for Emotionally Severely Handicapped Children in Korea

Hong SD, Lee S, Oh MR, Jin DK

  • J Genet Med.
  • 1998 Dec;2(2):83-86.
Though Fragile X syndrome is one of the most common inherited causes of mental retardation, it is not much detected yet in Korean population. One of the reason may be...
In Situ Culture and Harvest of Amniocytes using coverslip processing method

Cheong KS, Hwang D, Lee DS, Cho SK, Kim KC, Min EG

  • J Genet Med.
  • 1998 Dec;2(2):79-81.
Genetic amniocenteses were performed in a series of 127 patients as a routine study. Samples from the patients were cultured by in situ method, flask method or both according to...
Comparative Genomic Hybridization Analysis of Fetal Chromosomal Aberrations

Choi SK, Kim YM, Park SY, Kim JW, Ryu HM, Go CW, Park CT, Jun JY, Park IS

  • J Genet Med.
  • 1998 Dec;2(2):71-77.
Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method...
Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea

Hwang HS, Hwang JH, Kim HS, Kim NK, Kim SJ, Lee CC, Chung KW

  • J Genet Med.
  • 1998 Dec;2(2):65-70.
Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2...
The Frequency of Chromosomal Abnormalities and the Prenatal Cytogenetic Analyses for Couples with Recurrent Abortions

Choi SK, Park SY, Han JY, Ryu HM, Jun JY

  • J Genet Med.
  • 1998 Dec;2(2):59-63.
Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study....
Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues

Choi SK, Cho EH, Kim JW, Park SY, Kim YM, Ryu HM, Kang IS, Jun JY, Chi HG

  • J Genet Med.
  • 1998 Dec;2(2):53-57.
Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate...
Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome

Lee MH, Park SY, Ryu HM, Hong SR, Lee YH, Choi SK

  • J Genet Med.
  • 1998 Dec;2(2):49-51.
Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report,...

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