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12 results


Jeong SY, Jang SH, Kim HJ

  • J Genet Med.
  • 2008 Dec;5(2):150-150.
No abstract available.
A Case of a 46,XX Male with SRY Gene

Min J, Lee DS, Cho SK, Park S, Lee S, Baek M, Kim K, Hwang D

  • J Genet Med.
  • 2008 Dec;5(2):145-149.
46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia,...
Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier

Lee BY, Ryu HM, Lee MH, Park JY, Kim JW, Lee JS, Kim HO, Kim MH, Park SY

  • J Genet Med.
  • 2008 Dec;5(2):139-144.
We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year- old man with azoospermia and in a family of a 38-year-old pregnant...
Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report

Park SY, Lee WR

  • J Genet Med.
  • 2008 Dec;5(2):136-138.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and...
A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene

Cheon CK, Cho MS, Ko JM, Kim GH, Yoo HW

  • J Genet Med.
  • 2008 Dec;5(2):131-135.
Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can...
Midtrimester Amniocentesis for Prenatal Diagnosis

Kim SR, Choi EJ, Kim TY, Kwon KH, Song NH, Oh SK, Chi HJ

  • J Genet Med.
  • 2008 Dec;5(2):125-130.
PROPOSE: To analyze the indications and cytogenetic results of midtrimester amniocentesis. MATERIAL AND METHODS: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000...
Polymorphisms of 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T) and Methionine Synthase Reductase (MTRR A66G) as Maternal Risk Factors for Fetal Aneuploidy

Kim DJ, Kim SY, Park SY, Kim JW, Kim MY, Han JY, Yang JH, Ahn HK, Choi JS, Chung JH, Ryu HM

  • J Genet Med.
  • 2008 Dec;5(2):119-124.
PURPOSE: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of...
A Cost-Benefit Analysis of Neonatal Screening Tests for Maple Syrup Urine Disease, Homocystinuria, Galactosemia, and Congenital Adrenal Hyperplasia

Park SY, Kim DI, Lee DH

  • J Genet Med.
  • 2008 Dec;5(2):111-118.
PURPOSE: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that...
Intercellular Adhesion Molecule-1 Gene Polymorphism (K469E) in Korean Preeclamptic Women

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

  • J Genet Med.
  • 2008 Dec;5(2):105-110.
PURPOSE: Preecalmpsia is a pregnancy-specific disorder that reflects widespread endothelial dysfunction resulting from increases of adhesion molecule expression. Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenetic mechanisms responsible for...
DNA Methylation in Development

Choe J

  • J Genet Med.
  • 2008 Dec;5(2):100-104.
DNA methylation is one of many epigenetic mechanisms that regulate gene expression in the human body. From the view of epigenetics, there are two phases of development, one for germ...
Clinical Approaches to Patients with Congenital Malformations

Lee JS

  • J Genet Med.
  • 2008 Dec;5(2):94-99.
Congenital malformation is observed in about 2-5% of newborns and is a leading cause of infant mortality. The prognosis of malformation is dictated mainly by proper treatment followed by correct...
Challenge of Personalized Medicine in the Genomic Era

Kim HJ

  • J Genet Med.
  • 2008 Dec;5(2):89-93.
"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the 21st century...

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