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Cytogenetic Analysis of Squamous Cell Carcinoma of the Lung

Jo SJ

  • KMID: 2030733
  • Korean J Anat.
  • 1997 Oct;30(5):567-574.
The cytogenetic study of 3 cases of squamous cell carcinoma of the lung was performed to identify chromosomal abnormalities. All tumor cells were hypodiploid state on the average. Specicfic chromosomal...
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Cytogenetic Analysis for Amenorrhea

Lee WI, Suh JT, Choi EH

  • KMID: 2225911
  • Korean J Clin Pathol.
  • 1999 Dec;19(6):741-745.
BACKGROUND: Chromosomal aberration is one of the major causes of amenorrhea. So we studied the incidence and the clinical importance of chromosomal aberration in patients with amenorrhea. METHODS: Cytogenetic investigations were...
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Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

Lee YH, Kim T, Kim MH, Kim YT, Kim SH

  • KMID: 755105
  • Exp Mol Med.
  • 2000 Dec;32(4):231-234.
The objective of this study was to elucidate the cause of the spermatogenic defect in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome. Genomic DNAs from 9 cases...
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New Advances in Human X Chromosome Status from a Developmental and Stem Cell Biology

Patterson , Tanaka Y, Park IH

Recent advances in stem cell biology have dramatically increased the understanding of molecular and cellular mechanism of pluripotency and cell fate determination. Additionally, pluripotent stem cells (PSCs), including embryonic stem...
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Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases

Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS

A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was...
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A Case of mos 45,X/46,X, +mar. ish der(X)(wcpX+) Turner Syndrome

Kim MH, Jeon YM, Shin SY, Jung TE, Park YM, Koo SH, Park JW

  • KMID: 2031014
  • Korean J Clin Pathol.
  • 1999 Aug;19(4):453-455.
Turner syndrome is a genetic disorder that affects about 1/2,000-1/5,000 females born. The typical female with Turner syndrome has only one X chromosome in each of her cells. There are...
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A Case of Spontaneous Pregnancy in Patient with Premature Ovarian Failure Who Has a Y Chromosome

Nam YS, Kim NK, Jang SU, Lee SH, Yoon TK, Cha KY

  • KMID: 2020128
  • Korean J Obstet Gynecol.
  • 2003 Jan;46(1):144-147.
Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. A karyotype should be performed as part of basic laboratory evaluation for...
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A Case of Pregnant Woman with 46 , X , del ( X ) ( q 26 ) Turner Karyotype Whose Fetus Shows the Same Karyotype

Oh BH, Lee JM, Lee JH, Lee KH, Jung AY, Ryou C, Kwon M

  • KMID: 2261906
  • Korean J Obstet Gynecol.
  • 2000 Apr;43(4):721-724.
Turner syndrome with abnormalities of X chromosome is generally characterized by gonadal dysgenesis causing premature ovarian failure, primary and secondary amenorrhea. Premature ovarian failure is often caused by X chromosome aberrations. It...
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A Family of Charcot-Marie-Tooth 1A Confirmed by Molecular Genetic Analysis

Choi BO, Sunwoo IN, Lee JS, Bae JC

  • KMID: 1659740
  • J Korean Neurol Assoc.
  • 1996 Dec;14(4):1023-1029.
Recently, thanks to the development of the molecular genetics which had made us understand the nature of some genetic disorders, the concept of the classification has changed. Charcoal-Marie-Tooth disease (CMT)...
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A Case of Azoospermia Associated with Y - Autosome Translocation

Lee SH, Yoon TK, Cha KY, Kwak IP, Kim HJ, Nam YS

  • KMID: 2261375
  • Korean J Obstet Gynecol.
  • 1999 Mar;42(3):625-627.
Aneuploidy results from nondisjunction in either the meiotic division of the parents or the early cleavage divisions of the affected individuals. The sex chromosomes show a wide range of viable...
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A Cytogenetic Study of Recurrent Spontaneous Abortion

Lee KS, Han JH, Oh SK, Moon SY

  • KMID: 1891296
  • Korean J Fertil Steril.
  • 1999 Dec;26(3):475-481.
OBJECTIVE: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. METHODS : A cytogenetic study was made in of 921 couples...
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A Case of Premature Ovarian Failure in Patient with Unbalanced translocation on the X chromosome

Shin JH, Byun JC, Han MS, Cha MS, Je GH, Kim HH, Han JY

  • KMID: 2272664
  • Korean J Obstet Gynecol.
  • 2005 Aug;48(8):2000-2004.
Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle...
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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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Role of multicolor fluorescence in situ hybridization (FISH) in simultaneous detection of probe sets for chromosome 18, X and Y in uncultured amniotic fluid cells

Kim JI, Rhee JH

Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The...
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Molecular Genetic Screening for the SRY(Sex Determining Region of the Y chromosme) Gene in Turner Syndrome Patients

Shim JY, Yoo HW

  • KMID: 1747716
  • J Korean Pediatr Soc.
  • 1996 Jul;39(7):915-923.
PURPOSE: Turner syndrome is among the most common cytogenetic abnormalities associated with X chromosome. In only 40-60% of Turner syndrome, 45,X monosomy is found and the high prenatal mortality of...
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Dermatoglyphic Characteristics of the Korean Patients with Numeral Aberrations of Chromosome

Chung MS, Kim YS, Kim HJ, Sohn HJ, Han HS

  • KMID: 1578385
  • Korean J Phys Anthropol.
  • 2000 Mar;13(1):31-38.
Dermatoglyphics (fingerprints, palmprints, and palm creases) are helpful in early diagnosis of numeral aberrations of chromosome, each of which has specific dermatoglyphic characteristics. In this study, for early diagnosis of...
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Molecular Analysis of the Y Chromosome in a 46,XY Female Phenotype

Kim JW, Kim TJ, Park SY, Nam SA, Jun JY

  • KMID: 1536936
  • J Genet Med.
  • 1999 Dec;3(1):5-10.
This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus)in an 18-year-old patient. To confirm whether a Y chromosome has...
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A Case of 46 , XX Male

Kim JI, Rhee JH, Kang SS

  • KMID: 2261376
  • Korean J Obstet Gynecol.
  • 1999 Mar;42(3):628-631.
46, XX male is a rare sex cluomasomal constitution characterized by the development of bilateral testis in persons who lack a Y chomosome. The majority of affected persons have normal...
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Loss of heterozygosity on chromosome XP22.2-p22.13 and Xq26.1-q27.1 in human breast carcinomas

Choi C, Kim MH, Juhng SW

In an attempt to investigate the X chromosome harboring putative tumor suppressor genes (TSGs) in sporadic breast carcinoma, we performed loss of heterozygosity (LOH) studies on 23 breast carcinomas...
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A case of unusual premature ovarian failure with 46,X,dup(Xq)

Hyeon HS, Park BR, Kim YS, Mun ST, Jeon S, Choi YS, Bae DH

  • KMID: 1474945
  • Korean J Obstet Gynecol.
  • 2009 Aug;52(8):883-888.
Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle...
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