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12 results

Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy

Lee BY, Park SY, Lee MH, Kim JW, Park JY, Choi EY, Lee YW, Oh AR, Lee SY, Kim MH, Ryu HM

  • J Genet Med.
  • 2009 Jun;6(1):95-99.
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level...
A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma

Song JH, Sun DS, Kim H, Lee YH, Hong YH, Lee DH

  • J Genet Med.
  • 2009 Jun;6(1):91-94.
Werner syndrome (WRN), or adult progeria, is a very rare, autosomal recessive disorder characterized by the appearance of accelerated aging, including cataracts, gray hair, skin atrophy, and atherosclerosis. This syndrome...
A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation

Lee BH, Kim JM, Lee JJ, Kim GH, Yoo HW

  • J Genet Med.
  • 2009 Jun;6(1):87-90.
Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other...
A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia

Ko JM, Kwack KS, Baek KN, Cho DY, Kim HJ

  • J Genet Med.
  • 2009 Jun;6(1):81-86.
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and...
Integrated Test for Screening in Down Syndrome as a Predictor of Adverse Pregnancy Outcomes

Park SW, Kang JH, Lee KJ, Jun HS, Kang MS, Huh JY, Cha DH

  • J Genet Med.
  • 2009 Jun;6(1):74-80.
PURPOSE: To assess the value of first-trimester pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and second-trimester alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A in predicting pregnancy...
Correlation between Karyotype and Phenotype in Turner Syndrome

Shim YJ, Hwang YJ, Lee KS

  • J Genet Med.
  • 2009 Jun;6(1):67-73.
PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical...
A Cytogenetic Analysis of Abortus with Spontaneous Abortion

Hwang SM, Kwon KH, Yoon KA, Oh SK

  • J Genet Med.
  • 2009 Jun;6(1):62-66.
PURPOSE: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries...
The Y153H Variant of the STOX1 Gene in Korean Patients with Preeclampsia

Kim SY, Park SY, Lim JH, Yang JH, Kim MY, Park HY, Lee KS, Kim YJ

  • J Genet Med.
  • 2009 Jun;6(1):56-61.
PURPOSE: Preeclampsia is a multifactorial disorder with genetic and environmental components. Recently, the STOX1 gene, identified as a candidate gene for preeclampsia in Dutch women, has been shown to be...
A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea.

Choi JY, Kim HJ

  • J Genet Med.
  • 2009 Jun;6(1):38-55.
PURPOSE: This study was undertaken to provide the framework for development of a genetic counseling training program, and an accreditation and certification process suitable for non-M.D. genetic counselors in Korea. MATERIALS...
Genetics of Hereditary Peripheral Neuropathies

Cho SY, Choi BO

  • J Genet Med.
  • 2009 Jun;6(1):25-37.
Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into...
Genetic Background of Congenital Hearing Loss

Oh SH, Song JJ

  • J Genet Med.
  • 2009 Jun;6(1):8-24.
Understanding the genetic background of hearing loss is important since almost 50% of the cases of profound hearing loss are caused by genetic factors. Until now, more than 150 causative...
DNA Methylation Changes in Human Cancers

Kwon HJ, Kang GH

  • J Genet Med.
  • 2009 Jun;6(1):1-7.
Epigenetic changes represented by promoter CpG island hypermethylation and histone modification are an important carcinogenetic mechanism, which is found in virtually all histologic types of human cancer. About 60-70% of...

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