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A Case with Balanced Chromosome Rearrangement Involving Chromosomes 9, 14, and 13 in a Woman with Recurrent Abortion

Kim SK, Kim HJ, Yang YH, Kim IK, Bai SW, Kim JY, Park KH, Cho DJ, Song CH

A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding...
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A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)

Lee SY, Cho SM

  • KMID: 1606978
  • J Korean Pediatr Soc.
  • 2003 Aug;46(8):831-835.
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome...
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B-cell Acute Lymphoblastic Leukemia With t(9;22)(q34;q11) Translocation and Clonal Divergence Through ider(22) Chromosome and t(13;17)(q14;q25) Translocation

Meza-Espinoza JP, Romo Martinez EJ, Aguilar Lopez L, Picos Cardenas VJ, Magana Torres MT, Gonzalez Garcia JR

No abstract available.
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A Case of Generalized Vitiligo Associated with Interstitial Deletion of Chromosome 13q

Jeong YI, Han SS, Chang SE, Lee MW, Choi JH, Moon KC, Koh JK

No abstract available.
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Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy

Lee BY, Park SY, Lee MH, Kim JW, Park JY, Choi EY, Lee YW, Oh AR, Lee SY, Kim MH, Ryu HM

  • KMID: 2244898
  • J Genet Med.
  • 2009 Jun;6(1):95-99.
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level...
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Abnormalities in Chromosomes 1q and 13 Independently Correlate With Factors of Poor Prognosis in Multiple Myeloma

Kim M, Ju YS, Lee EJ, Kang HJ, Kim HS, Cho HC, Kim HJ, Kim JA, Lee DS, Lee YK

BACKGROUND: We comprehensively profiled cytogenetic abnormalities in multiple myeloma (MM) and analyzed the relationship between cytogenetic abnormalities of undetermined prognostic significance and established prognostic factors. METHODS: The karyotype of 333 newly...
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A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon

Choi JL, Kim BR, Kim JE, Woo KS, Kim KH, Kim JM, Jeong JA, Han JY

  • KMID: 2312222
  • Lab Med Online.
  • 2013 Apr;3(2):119-123.
Chromosome 13q deletion syndrome, which is relatively rare, is characterized by a wide spectrum of phenotypes resulting from a partial deletion of the long arm of the chromosome 13. The...
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Assignments of the tyrosinase related protein-1 and -2 genes to human chromosome bands 9p23 and 13q32.1 by in situ hybridization

Lee YM, Ha MJ, Ryu MS, Moon E, Im S, Kim HJ, Kim W

To determine the precise chromosomal localization of tyrosine related protein-1 and -2 (TRP-1 and TRP-2) genes by fluorescence in situ hybridization, we used DNAs isolated from human bacterial artificial chromosome...
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Loss of heterozygosity on chromosome 10, 13q(Rb), 17p, and p53 gene mutations in human brain gliomas

Lee SH, Kim JH, Rhee CH, Kang YS, Lee JH, Hong SI, Choi KS

Using the methods of restriction fragment length polymorphism (RFLP) and single strand conformation polymorphism (SSCP) analyses, we have examined 33 cases of human gliomas with various malignant grades to detect...
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A case of mosaic ring chromosome 13 syndrome

Kim SY, Oh SM, Kim MJ, Song ES, Kim YO, Choi YY, Woo YJ, Hwang TJ

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases...
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Microsatellite Alterations of Chromosome 9p, 13q, 16q in Hepatocellular Carcinoma

Cho SJ, Kim NR, Min YK, Joh YG, Cho MY, Suh SO, Yeom BW, Won NH

  • KMID: 2095938
  • J Korean Surg Soc.
  • 2001 Sep;61(3):305-311.
PURPOSE: Hepatocellular carcinoma (HCC) patients are asymptomatic and the tumor remains in an unresectable state until the tumor progresses. Recently much efforts for elucidation of the early hepatocarcinogenesis have been...
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A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

Chung JL, Choi JR, Park MS, Choi SH

"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we...
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Correlation of Chromosomal Aberrations with Prognostic Markers in Multiple Myeloma Patients- A Single Institution Study

Lee JW, Lee JK, Hong YJ, Hong SI, Chang YH

BACKGROUND: Immunoglobulin heavy chain (IGH) gene rearrangement, 13q14 deletion and trisomy 1q are frequently observed in Korean patients with multiple myeloma. The purpose of our study was to analyze the...
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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 Sinusoidal Hemangioma with Lipoma

Song BH, Youn SH, Park EJ, Kwon IH, Kim KH, Kim KJ

Sinusoidal hemangioma is a distinctive subset of a group of lesions known collectively as cavernous hemangiomas. Clinically, it develops in adults, predominantly females, and presents as a solitary, painless, bluish,...
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Clinical significance of molecular genetic changes in sporadic invasive pituitary adenomas

Nam DH, Song SY, Park KS, Kim MH, Suh YL, Lee JI, Kim JS, Hong SC, Shin HJ, Park K, Eoh W, Kim JH

  • KMID: 938873
  • Exp Mol Med.
  • 2001 Sep;33(3):111-116.
Several molecular and genetic changes have been found in pituitary adenomas. We looked for correlations between these changes and the degree of invasiveness of the tumors. The invasiveness of 11...
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A Case of 13q- Syndrome with Arthrogryposis Multiflex Congenita

Ko YS, Kim MS, Choi SI, Cho SC

  • KMID: 2188694
  • J Korean Soc Neonatol.
  • 2003 May;10(1):103-107.
13q- syndrome is a rare genetic disorder characterized by psychomotor retardation, hypotonia, microcephaly, retinoblastoma, ptosis and coloboma. Facial and congenital heart anomalies are also found and about 60% of males...
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Study on the Chromosome 13 and 17 of Prostatic Cancers by Fluorescence In Situ Hybridization Technique

Hyun JS, Park JY

  • KMID: 2060643
  • Korean J Urol.
  • 1996 Aug;37(8):859-866.
To detect the numerical changes of the chromosome 13 and 17, containing tumor suppressor genes (retinoblastoma gene and p53) in normal tissue, intraepithelial neoplasm and carcinoma of the prostate, the...
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A Case of Del 13(q24) Syndrome with Multiple Anomalies

Lee SY, Jung HJ, Nam IH, Jang MY

  • KMID: 2073215
  • Korean J Pediatr.
  • 2004 Oct;47(10):1128-1131.
It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies, and of them, 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations...
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A Case of Patau Syndrome Diagnosed in Antenatal Care

Bae SK, Jung JS, Kee HS, Kim YS, Kwon H, Park JH, Kim TH

  • KMID: 2272144
  • Korean J Obstet Gynecol.
  • 2003 Aug;46(8):1634-1638.
Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It...
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