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Prenatal detection of de novo inversion of chromosome 9 with duplicated heterochromatic region and postnatal follow-up

Kim JJ, Rhee HS, Chung YT, Park SY, Choi SK

  • KMID: 755041
  • Exp Mol Med.
  • 1999 Sep;31(3):134-136.
We report the first de novo case of a heterochromatic duplication on the long arm of the chromosome 9, which then was pericentrically inverted at p11q13. This condition was detected prenatally and...
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A Case of Supernumerary Derivative (22) Syndrome Resulting from a Paternal Balanced Translocation

Jun YS, So CH, Yu ST, Park DS, Cho EH, Oh YK

  • KMID: 2144477
  • J Korean Soc Neonatol.
  • 2010 May;17(1):127-131.
Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate,...
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Acute Lymphoblastic Leukemia with Mature B-Cell Phenotype and t(9;11;11)(p22;q23;p11.2): A Case Study and Literature Review

Kim B, Lee ST, Kim HJ, Lee SH, Yoo KH, Koo HH, Kim SH

No abstract available.
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A Rare Case of Pediatric T Lymphoblastic Leukemia With t(11;17)(q23;q21) Involving Mixed-Lineage Leukemia Gene Rearrangement

Kim H, Lee JK, Lee JA, Hong YJ, Hong SI, Jo HS, Chang YH

No abstract available.
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CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations

Seok Y, Kim J, Choi JR, Kim YR, Park SJ, Kim SJ, Song J, Lee KA

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant...
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MLL-SEPT5 Fusion Transcript in Two de novo Acute Myeloid Leukemia Patients With t(11;22)(q23;q11)

Wang N, Wu X, Sheng G, Ma L, Wen L, Yao H, Chen S

No abstract available.
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Three-way Translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a Pediatric Case of Acute Myeloid Leukemia

Jun KR, Lee JN, Park JA, Kim HR, Shin JH, Oh SH, Lee JY, Song SA

The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is...
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Constitutional Chromosomal Abnormality Identified in a Sibling Donor After Bone Marrow Stem Cell Transplantation in a Pediatric Patient with Acute Megakaryoblastic Leukemia

Seo BY, Choi HW, Kang MG, Cho D, Kee SJ, Kim SH, Shin JH, Suh SP, Ryang DW, Shin MG

No abstract available.
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Congenital Monoblastic Leukemia with 9;11 Translocation in Monozygotic Twins: A Case Report

Park SY, Jang JJ, Kim CW, Cho HI, Chi JG

We report an autopsy case of congenital monoblastic leukemia that developed in monozygotic twins. The twin presented with progressive hepatosplenomegaly at 4 weeks after birth. One twin died of massive...
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Detection of t(11;22)(q24;q12) translocation of Ewing's sarcoma in paraffin embedded tissue by nested reverse transcription-polymerase chain reaction

Park YK, Chi SG, Park HR, Yang MH, Unni KK

Ewing's sarcoma is a poorly characterized malignant tumor with a relatively uniform histologic appearance, made up of densely packed small cells with round to oval nuclei, without distinct cell...
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Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization

Shin YB, Nam SO, Seo EJ, Kim HH, Chang CL, Lee EY, Son HC, Hwang SH

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby...
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Analysis of Loss of Heterozygosity on the Chromosome 3, 4, 5 and 11 in Uterine Cervical Carcinomas

Nam JH, Jung JJ, Choi C

  • KMID: 2172444
  • Chonnam Med J.
  • 2000 Dec;36(4):349-356.
Infection of cervical epithelial cells with specific human papilloma virus subtypes appears to be necessary etiological factors for most cervical carcinomas, but yet additional genetic changes such as activation of...
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A Case of Mantle Cell Lymphoma with Meningioma

Kim ES, Goh PG, Kim YJ, Lee SY, Moon HS, Sung JK, Lee BS, Jeong HY

Mantle cell lymphoma (MCL) is an uncommon type of gastrointestinal lymphoma. MCL is a distinct subtype of B-cell non-Hodgkin lymphomas. The major subtype of MCL is characterized by the presence...
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Regulation of Immune Responses by the Activating and Inhibitory Myeloid-Associate Immunoglobuline-Like Receptors (MAIR) (CD300)

Shibuya A, Nakahashi-Oda C, Tahara-Hanaoka S

Activating and inhibitory cell surface receptors play important roles in regulation of immune responses. Recent progress has demonstrated that many inhibitory receptors pair with activating, as well as inhibitory, isoforms,...
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A De Novo Centric Fission of Chromosome 11 in a Patient with Recurrent Miscarriages

Shim SH, Lee CH, Lee JY, Shin ES, Kyhm JH, Park MI, Chung SR, Cho YH

We report on a de novo centric fission of chromosome 11 in a healthy female referred for chromosome analysis due to recurrent miscarriages. Both fission products were mitotically stable. This...
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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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Clathrin Assembly Lymphoid Myeloid Leukemia-AF10-positive Acute Leukemias: A Report of 2 Cases with a Review of the Literature

Huh JY, Chung S, Oh D, Kang MS, Eom HS, Cho EH, Han MH, Kong SY

The translocation t(10;11)(p13;q14q21) has been found to be recurrent in acute lymphoblastic and myeloid leukemias, and results in the fusion of the clathrin assembly lymphoid myeloid leukemia (CALM) gene with...
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The First Korean Case of Childhood Acute Myeloid Leukemia with Inv(11)(p15q22)/NUP98-DDX10 Rearrangement: A Rare but Recurrent Genetic Abnormality

Choi R, Jang MA, Yoo KH, Lee ST, Kim HJ, Kim SH

No abstract available.
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A Case of Therapy-related Acute Lymphoblastic Leukemia with t(11;19)(q23;p13.3) and MLL/MLLT1 Gene Rearrangement

Yoo BJ, Nam MH, Sung HJ, Lim CS, Lee CK, Cho YJ, Lee KN, Yoon SY

Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11q23 abnormalities are the most common karyotypic alterations in t-ALL. The t(11;19)(q23;p13)...
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RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans

Lee YJ, Park SS, Kim JY, Cho HI

Korea is in the low-prevalence area of beta-thalassemia and the Korean population has relatively homogenous racial characteristics. Recently, we identified some causative mutations of the Korean beta-thalassemia patients. In order...
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