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A Case of Donor Cell Leukemia after Allogenic Peripheral Blood Stem Cell Transplantation for Acute Promyelocytic Leukemia with PML-RARA

Shin WY, Bang HI, Kim J, Kim KH, Won JH, Park R

Donor cell leukemia (DCL), a rare but fatal complication arising from allogenic stem cell transplantation, is a complex disease associated with multiple pathophysiological processes. Specific diagnosis of DCL distinct from...
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Genetic Screening for Chromosomal Abnormalities and Y Chromosome Microdeletions in 846 Infertile Korean Men

Han SH, Bak CW, Cho H, Ban GW, Kang JS, Lim HS, Lee KR, Hwang SY

BACKGROUND: Chromosomal abnormalities are confirmed as one of the frequent causes of male infertility. The microdeletion of the azoospermia factor (AZF) region in the Y chromosome was discovered as another...
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An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis

Kuroda S, Usui K, Mori K, Yasuda K, Asai T, Sanjo H, Yakanaka H, Takeshima , Kawahara T, Hamanoue H, Kato Y, Miyoshi Y, Uemura H, Iwasaki A, Yumura Y

We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was...
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Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Park SY, Ryu HM, Lee SW

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16...
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Sperm DNA fragmentation and sex chromosome aneuploidy after swim-up versus density gradient centrifugation

Kim SW, Jee BC, Kim SK, Kim SH

OBJECTIVE: The aim of this study was to compare the efficacy of swim-up and density gradient centrifugation (DGC) for reducing the amount of sperm with fragmented DNA, sex chromosome aneuploidy,...
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A boy with 46,X,+mar presenting gynecomastia and short stature

Kim KE, Kim YJ, Jung MK, Chae HW, Kwon AR, Lee WJ, Kim DH, Kim HS

A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left...
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No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome

Lee HJ, Jung HW, Lee GM, Kim HY, Kim JH, Lee SH, Kim JH, Lee YA, Shin CH, Yang SW

PURPOSE: Whether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq) play a role in three-year height response to growth hormone (GH) were investigated. METHODS:...
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DNA Analysis of a Microdeletion Case on Y Chromosome

Lee JH, Kim H, Shinde V, Shin DH, Lee SD

The Y-chromosome, as with other chromosomes in the cell, is subject to mutations. However, unlike autosomal genes, the Y chromosome does not undergo recombination, and therefore individuals from different geographical...
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Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

Park SH, Shim SH, Jung YW, Kim DH, Kang SJ, Park SO, Cha DH

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the...
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Statistical Evaluation of Lineage Markers in Individual Identification

Lee HJ, Lee SD, Lee SH, Park SJ, Jeong SJ, Lee JW

Mitochondrial DNA (mt DNA) and the non-recombining region of the Y chromosome are passed down, unaltered, from generation to generation, matrilineally and patrilineally, respectively. Therefore, the Y-chromosome DNA and mtDNA...
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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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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 Case of Molecular Analysis of XX Male Syndrome

Lee HY, Lyoo SH, Hwang CH, Lee SD

Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX...
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Y Haplogroup Distribution in Korean and Other Populations

Zhang AH, Lee HY, Seo SB, Lee HJ, Jin HX, Cho SH, Lyoo SH, Kim KH, Lee JW, Lee SD

With globalization, international exchange has increased. Accordingly, the necessity for individual identification using genetic polymorphism has also increased. Paternal lineages are distributed differently, and different distribution patterns can be used...
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Isodicentric Y Chromosome Mosaic with Normal Y Chromosome in an Infertile Male Patient: A Case Report and Review of the Literatures

Kim JW, Bak CW, Park SH, Yoon TK, Cha DH, Shim SH

  • KMID: 2329531
  • J Reprod Endocrinol.
  • 2012 Apr;4(1):49-55.
Among the structural abnormalities affecting Y chromosome, isodicentric chromosomes are the most common. The phenotype range from infertile male to Turner-like female through mixed gonadal dysgenesis. The case of a...
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Squamous cell carcinoma of the vulva in a virgin patient with Turner syndrome

Tapisiz OL, Topcu O, Gungor T, Ozdal B, Sirvan L, Yesilyurt

Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is...
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Ovarian mixed germ cell tumor in a patient with 45,X/46,X,+mar mosaic Turner's syndrome

Kim HK, Song MH, Ahn BN, Choi JY, Oh HK, Lee TS

We report a case that mixed germ cell tumor developed in an 18-year-old girl with 45,X/46,X,+mar mosaic Turner's syndrome. Molecular biological studies showed that the patient's DNA contained a fragment...
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High Frequency of Male Microchimerism in Peripheral Blood Mononuclear Cells of Korean Women with Scleroderma, Resembling Skin Manifestations of Chronic Graft Versus Host Disease

Kim BE, Koh KN, Seo JJ, Jang SS, Park CJ, Kim MJ, Im HJ

  • KMID: 2168934
  • Clin Pediatr Hematol Oncol.
  • 2011 Apr;18(1):50-53.
BACKGROUND: Bidirectional traffic of cells at the feto-maternal interface has been shown during pregnancy and fetal cells have been found to persist in maternal peripheral blood for decades after childbirth....
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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

  • KMID: 2184483
  • 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...
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Null and Duplicated Alleles of 17 Y-STR Haplotypes in Koreans and Considerations for Forensic Application

Cho NS, Yoo SY, Hwang JH, Seong KM, Chung NE, Lee WT

  • KMID: 2305493
  • Korean J Leg Med.
  • 2010 Nov;34(2):147-151.
The analysis of Y chromosome polymorphisms has become common place for the identification of male component in forensic cases. In male/female mixtures of many rape cases, Y-STRs are also very...
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