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11 results

Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation

Lee S, Lee D, Jeong H, Kim K, Hwang D

  • J Genet Med.
  • 2008 Jun;5(1):65-68.
Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe...
Pseudoisodicentric X chromosome in a female with primary amenorrhea

Park SH, Shim SH, Chin MU, Kang SJ, Bae SM, Sohn SM, Cha DH, Yoon TK, Cho JH

  • J Genet Med.
  • 2008 Jun;5(1):61-64.
A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with...
Karyotype analysis of cryopreserved mononuclear cells from cord blood

Ku KY, Chu MA, Kim JY, Lee KS

  • J Genet Med.
  • 2008 Jun;5(1):55-60.
PURPOSE: The ability to perform chromosome analysis of cryopreserved cord blood mononuclear cells is important for future retrospective studies. We compared the karyotypes of cryopreserved cells with cells before cryopreservation. METHODS:...
Rapid prenatal diagnosis of chromosome aneuploidies in 943 uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH)

Han SH, Kang JS, An JW, Lee A, Yang YH, Lee KP, Lee KR

  • J Genet Med.
  • 2008 Jun;5(1):47-54.
PURPOSE: Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in...
Molecular diagnosis of fragile X syndrome in a female child

Jeong SY, Yang JA, Kim HJ

  • J Genet Med.
  • 2008 Jun;5(1):41-46.
PURPOSE: Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5'...
No association between endothelin-1 gene polymorphisms and preeclampsia in Korean population

Kim SY, Park SY, Lim JH, Yang JH, Kim MY, Park HY, Lee KS, Ryu HM

  • J Genet Med.
  • 2008 Jun;5(1):34-40.
PURPOSE: Preeclampsia is a major cause of maternal and perinatal mortality and morbidity and is considered to be a multifactorial disorder involving a genetic predisposition and environmental factors. Endothelin-1 (ET-1)...
The Study of DNA Mutations of Phenylketonuria in Koreans

Yoo SJ, Hong YH, Lee YW, Jung SC, Ki CS, Lee DH

  • J Genet Med.
  • 2008 Jun;5(1):26-33.
PURPOSE: Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the...
Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry

Song SM, Yoon HR, Lee A, Lee KR

  • J Genet Med.
  • 2008 Jun;5(1):21-25.
PURPOSE: In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began...
Diagnostic testing for Duchenne/Becker Muscular dystrophy using Dual Priming Oligonucleotide (DPO) system

Kim JH, Kim GH, Lee JJ, Lee DH, Kim JK, Yoo HW

  • J Genet Med.
  • 2008 Jun;5(1):15-20.
PURPOSE: Large exon deletions in the DMD gene are found in about 60% of DMD/BMD patients. Multiplex PCR has been employed to detect the deletion mutation, which frequently generates noise...
The recent trend of prenatal screening

Hwang D

  • J Genet Med.
  • 2008 Jun;5(1):7-14.
Twenty years have passed since a prenatal screening for Down syndrome and neural tube defect was applied to obstetric field. The Quad test (AFP, hCG, uE3, Inhibin-A) of the second...
The developmental biology of birth defect

Hong YH, Lee DH

  • J Genet Med.
  • 2008 Jun;5(1):1-6.
Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician...

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