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9 results

Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry

Cheon CK, Choi HS, Kim SY, Yoo HW, Kim GH

  • J Genet Med.
  • 2012 Jun;9(1):42-46.
  • doi: 10.5734/JGM.2012.9.1.42
Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid beta-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay,...
A Korean Family with Cholesterol Ester Transfer Protein Deficiency

Youn SY, Shin IS, Hong YH, Lee DH

  • J Genet Med.
  • 2012 Jun;9(1):38-41.
  • doi: 10.5734/JGM.2012.9.1.38
A 32-year-old female patient and her sister show high levels of high density lipoprotein (HDL) cholesterol in regular health checkups, since female patient was 11 years old. The patient's serum...
A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

Kim JH, Kim YM, Lee BH, Kim JH, Seo EJ, Yoo HW

  • J Genet Med.
  • 2012 Jun;9(1):35-37.
  • doi: 10.5734/JGM.2012.9.1.35
Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating...
A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

Kim HJ, Lee BH, Kim YM, Kim GH, Kim OH, Yoo HW

  • J Genet Med.
  • 2012 Jun;9(1):31-34.
  • doi: 10.5734/JGM.2012.9.1.31
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings...
Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations

Hong WS, Kim KS, Jung YS, Kang SY, Kang DK, Kim TH, Yim H, Chun M, Park MC, Chang SJ

  • J Genet Med.
  • 2012 Jun;9(1):25-30.
  • doi: 10.5734/JGM.2012.9.1.25
Among the treatment options for BRCA mutation carriers, risk reducing surgery is the most effective. However, this procedure has been rarely performed in Korea. Interestingly, our case showed double heterozygosity...
Fetal Loss Rate after Mid-trimester Amniocentesis

Han YJ, Kim YY, Lee SW, Kim MH, Chung JH, Ahn HK, Han JY, Kim MY, Yang JH, Choi KH, Park SY, Ryu HM

  • J Genet Med.
  • 2012 Jun;9(1):22-24.
  • doi: 10.5734/JGM.2012.9.1.22
PURPOSE: The aim of this study was to asses the fetal loss rate after mid-trimester amniocentesis. MATERIALS AND METHODS: This was a retrospective cohort study including singleton pregnant women who underwent...
Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year update (2001-2010)

An GH, Choi KH, Yang JH, Kim MY, Han JY, Park SY, Lee BY, Lee DE, Ryu HM

  • J Genet Med.
  • 2012 Jun;9(1):17-21.
  • doi: 10.5734/JGM.2012.9.1.17
PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected...
Application of Hot Start PCR Method in PCR-based Preimplantation Genetic Diagnosis

Kim SA, Kang MJ, Kim HS, Oh SK, Ku SY, Choi YM, Jun JK, Moon SY

  • J Genet Med.
  • 2012 Jun;9(1):11-16.
  • doi: 10.5734/JGM.2012.9.1.11
PURPOSE: To determine a method to improve the efficacy and accuracy of preimplantation genetic diagnosis (PGD) - polymerase chain reaction (PCR), we compared hot start PCR and conventional multiplex nested...
Hereditary Breast Cancer in Korea

Kim SW

  • J Genet Med.
  • 2012 Jun;9(1):1-10.
  • doi: 10.5734/JGM.2012.9.1.1
About 7% of all breast cancer (BC) cases result from a genetic predisposition, and approximately 1,000 patients develop hereditary BC (HBC) every year in Korea. BRCA1 and BRCA2 are the...

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