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9 results

Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male

Choi EY, Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Kim SY, Han YJ, Lee MB, Ryu HM, Seo JT, Park SY

  • J Genet Med.
  • 2010 Dec;7(2):160-164.
Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY...
The Recurrent Pregnancy Loss Associated with a Female Carrier of a Structural Chromosome Rearrangement

Lee S, Go S, Jo S, Park S, Moon S, Lee D, Kim KC, Hwang D

  • J Genet Med.
  • 2010 Dec;7(2):156-159.
Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal...
A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII

Lee YJ, Ko JM, Park SS, Cheon CK

  • J Genet Med.
  • 2010 Dec;7(2):151-155.
Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation...
Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

Ko JM, Kwack KS, Kim SH, Kim HJ

  • J Genet Med.
  • 2010 Dec;7(2):145-150.
Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had...
Reduced Number of Endothelial Progenitor Colony-Forming Units in Patients with Preeclampsia

Kim SY, Park SY, Kim JW, Lee MB, Han YJ, Ahn HK, Choi JS, Han JY, Kim MY, Choi KH, Ryu HM

  • J Genet Med.
  • 2010 Dec;7(2):138-144.
PURPOSE: Endothelial progenitor cells (EPCs), which mediates neovascularization of uterine endometrium may be involved in the neovascularization in the utero-placental circulation. Low numbers of endothelial progenitor colony-forming unit (CFU) in...
Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method

Kim GH, Lee JJ, Choi SH, Lee JY, Lee BH, Yoo HW

  • J Genet Med.
  • 2010 Dec;7(2):133-137.
PURPOSE: Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This...
A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD)

Kim MJ, Lee HS, Kang IS, Jeong SY, Kim HJ

  • J Genet Med.
  • 2010 Dec;7(2):125-132.
PURPOSE: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a...
Exome Sequencing in Mendelian Disorders

Lee JK

  • J Genet Med.
  • 2010 Dec;7(2):119-124.
More than 7,000 rare Mendelian diseases have been reported, but less than half of all rare monogenic disorders has been discovered. In addition, the majority of mutations that are known...
Clinical Applications of Chromosomal Microarray Analysis

Seo EJ

  • J Genet Med.
  • 2010 Dec;7(2):111-118.
Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test,...

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