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Detection of Y Chromosome Microdeletion is Valuable in the Treatment of Patients With Nonobstructive Azoospermia and Oligoasthenoteratozoospermia: Sperm Retrieval Rate and Birth Rate

Choi DK, Gong IH, Hwang JH, Oh JJ, Hong JY

  • KMID: 2316074
  • Korean J Urol.
  • 2013 Feb;54(2):111-116.
PURPOSE: We evaluated clinical characteristics, sperm retrieval rates, and birth rates in a relatively large number of infertile patients with Y chromosome microdeletions. MATERIALS AND METHODS: We retrospectively reviewed clinical data...
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A Clinical Study of Sex Chromosomal Abnormalities

Choi OH

  • KMID: 2260824
  • Korean J Obstet Gynecol.
  • 1997 Jun;40(6):1178-1188.
To provide current information on sex chromosome abnormalities to obstetricians andgynecologists who encounter such diagnoses and who counsel prospective parents faced withthe prenatal diagnosis of a sex chromosome abnormalities. I...
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A Case of Chorioretinal Coloboma in Triple X Syndrome

Lee NE, Park YJ, Yoo JM

PURPOSE: To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma. CASE SUMMARY: A one-year-old female infant presented with 35PD exotropia in the primary...
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Incidence and Clinical Significance of Sex Chromosome Losses in Bone Marrow of Patients with Hematologic Diseases

Huh J, Moon H, Chung WS

BACKGROUND: Loss of sex chromosomes in bone marrow is observed both in elderly persons as an aging phenomenon and in patients with hematologic malignancies. The purpose of this study...
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Success Rate of Microsurgical Multiple Testicular Sperm Extraction and Sperm Presence in the Ejaculate in Korean Men With Y Chromosome Microdeletions

Park SH, Lee HS, Choe JH, Lee JS, Seo JT

PURPOSE: We assessed the frequency of azoospermia factor a (AZFa), AZFb, and AZFc deletions and examined correlations between the deletion sites and the success rates of sperm presence within the...
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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a...
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Analysis of 1,062 Cases of Genetic Amniocentesis

Bae JM, Kang SS, Lee JH, Jeon HJ, Kim TH, Yoon SD, Kim JI

  • KMID: 1855618
  • Korean J Obstet Gynecol.
  • 1998 Jan;41(1):205-209.
Genetic amniocentesis has become established as a widely used tool for the diagnosis of fetal chromosome abnormalities, neural tube defect, and a variety of metabolic disease. This is an analysis...
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A Case of Azoospermia Associated with Inversion of Chromosome 1

Nam YS, Kim NK, Jeong CJ, Cha SH, Jang SU, Cha KY

  • KMID: 2262766
  • Korean J Obstet Gynecol.
  • 2002 May;45(5):851-854.
Chromosomally derived sterility has long been recognized. A review of the literature of somatic chromosome investigations in infertile males has shown that 13.7% of azoospermic males and 4.6% of oligozoospermic...
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Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

Kim JH, Lee GH, Cha DH, Cho EH, Jung YW

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and...
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Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year update (2001-2010)

An GH, Choi KH, Yang JH, Kim MY, Han JY, Park SY, Lee BY, Lee DE, Ryu HM

PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected...
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Analysis of 200 Cases of Midtrimesteric Amniocentesis

Park JS, Jeon HU, Kang SS, Chung HW, Moon YH, Chung KS

  • KMID: 2261222
  • Korean J Obstet Gynecol.
  • 1998 Dec;41(12):3044-3048.
OBJECTIVE: We analyzed 200 cases of prenatal amniocentesis and compared them with other reported studies. Thus we propose the necessity of metanalysis for prenatal amniocentesis. METHOD: We analyzed 200 cases...
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Studies on Male Infertility(VII): Clinical Observation on Klinefelter's Syndrome

Lee HY, Kim SH

  • KMID: 1911121
  • Korean J Urol.
  • 1977 Apr;18(2):153-160.
Klinefelter's syndrome was described in 1942 by Klinefelter, Reifenstein, and Albright and is characterized classically by small testes, azoospermia, gynecomastia, and elevated gonadotropins. The features become apparent during puberty. The...
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Application of DNA chip techniques for Yq microdeletion analysis in infertile males

Lee S, Joo HS, Lee SH, Park JE, Kim JM, Hwang JH, Cho KS, Hwang SY

  • KMID: 1380213
  • Exp Mol Med.
  • 2004 Apr;36(2):179-184.
Our aim was to apply DNA chip technology as a diagnostic tool in infertility research and clinics. Six loci, including a sex-determining region on the Y chromosome and five sequence-tagged...
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Preimplantation Genetic Diagnosis for Aneuploidy Screening in Patients with Poor Reproductive Outcome

Kim JY, Lim CK, Cha SH, Park SH, Yang KM, Song IO, Jun JH, Park SY, Koong MK, Kang IS

  • KMID: 2085181
  • Korean J Fertil Steril.
  • 2006 Sep;33(3):179-187.
OBJECTIVES: The risk of aneuploidies of embryos increases in advanced maternal age or parental karyotype abnormality and it results in poor reproductive outcomes such as recurrent spontaneous abortion (RSA) or...
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Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

Han SH, Yang YH, Ryu JS, Kang MS, Kim YJ, Lee KR

PURPOSE: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing...
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Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

Han SH, An JW, Jeong GY, Yoon HR, Lee A, Yang YH, Lee KP, Lee KR

BACKGROUND: Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has...
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