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9 results

Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH

  • J Genet Med.
  • 2017 Jun;14(1):43-47.
  • doi: 10.5734/JGM.2017.14.1.43
Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects....
Prenatal diagnosis of 4p deletion syndrome: A case series report

Kwak DW, Ahn HK

  • J Genet Med.
  • 2017 Jun;14(1):38-42.
  • doi: 10.5734/JGM.2017.14.1.38
The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in...
Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

  • J Genet Med.
  • 2017 Jun;14(1):34-37.
  • doi: 10.5734/JGM.2017.14.1.34
5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

Cha DH, Lee J, Jeon YJ, Jung YW, Jang JH, Lee T, Cho EH

  • J Genet Med.
  • 2017 Jun;14(1):31-33.
  • doi: 10.5734/JGM.2017.14.1.31
Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental...
A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

Lee J, Kim WD, Kim HS, Lee EK, Park HD

  • J Genet Med.
  • 2017 Jun;14(1):27-30.
  • doi: 10.5734/JGM.2017.14.1.27
Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown...
Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency

Kim YM, Seo GH, Kim GH, Yoo HW, Lee BH

  • J Genet Med.
  • 2017 Jun;14(1):23-26.
  • doi: 10.5734/JGM.2017.14.1.23
Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes...
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

Lee JH, Kim HS, Kim GH, Yoo HW

  • J Genet Med.
  • 2017 Jun;14(1):18-22.
  • doi: 10.5734/JGM.2017.14.1.18
Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes...
A genome-wide association study of the association between single nucleotide polymorphisms and brachial-ankle pulse wave velocity in healthy Koreans

Xu E, Shin J, Lim JE, Kim MK, Choi BY, Shin MH, Shin DH, Lee YH, Chun BY, Hong KW, Hwang JY

  • J Genet Med.
  • 2017 Jun;14(1):8-17.
  • doi: 10.5734/JGM.2017.14.1.8
PURPOSE: Pulse wave velocity (PWV) is an indicator of arterial stiffness, and is considered a marker of vascular damage. However, a genome-wide association study analyzing single nucleotide polymorphisms (SNPs) associated...
First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level

Lee DE, Kim SY, Kim HJ, Park SY, Kim MH, Han YJ, Ryu HM

  • J Genet Med.
  • 2017 Jun;14(1):1-7.
  • doi: 10.5734/JGM.2017.14.1.1
PURPOSE: The aim of this study was to assess the diagnostic efficacy of noninvasive prenatal screening for trisomy 18 by assessing the levels of unmethylated-maspin (U-maspin) and fetal nuchal translucency...

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