- Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia
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Kang DH, Kim SH, Jun JW, Lee YW, Shin HB, Ahn JY, Hong DS, Lee YK, Jeon BR
- KMID: 1381689
- Ann Lab Med.
- 2012 May;32(3):220-224.
- doi: 10.3343/alm.2012.32.3.220
The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1.... -
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- Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
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Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA
- KMID: 1096808
- Korean J Lab Med.
- 2010 Apr;30(2):195-200.
- doi: 10.3343/kjlm.2010.30.2.195
We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features... -
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- A Case of Chorioretinal Coloboma in Triple X Syndrome
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Lee NE, Park YJ, Yoo JM
- KMID: 2213006
- J Korean Ophthalmol Soc.
- 2009 Dec;50(12):1898-1901.
- doi: 10.3341/jkos.2009.50.12.1898
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
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Huh J, Moon H, Chung WS
- KMID: 1121661
- Korean J Lab Med.
- 2007 Feb;27(1):56-61.
- doi: 10.3343/kjlm.2007.27.1.56
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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- New Advances in Human X Chromosome Status from a Developmental and Stem Cell Biology
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Patterson , Tanaka Y, Park IH
- KMID: 2411861
- Tissue Eng Regen Med.
- 2017 Dec;14(6):643-652.
- doi: 10.1007/s13770-017-0096-4
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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- A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)
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Hwang SH, Lee SM, Seo EJ, Choi KU, Park HJ, Park NC, Choi J, Lee EY
- KMID: 1781474
- Korean J Lab Med.
- 2007 Apr;27(2):139-142.
- doi: 10.3343/kjlm.2007.27.2.139
A chromosomal abnormality was found in about 3.6-7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility.... -
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- Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy
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Jang MA, Jung CW, Jung CW
- KMID: 1707240
- Ann Lab Med.
- 2013 Jul;33(4):297-299.
- doi: 10.3343/alm.2013.33.4.297
No abstract available. -
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- Systematic Classification of Mixed-Lineage Leukemia Fusion Partners Predicts Additional Cancer Pathways
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Marschalek R
- KMID: 2373507
- Ann Lab Med.
- 2016 Mar;36(2):85-100.
- doi: 10.3343/alm.2016.36.2.85
Chromosomal translocations of the human mixed-lineage leukemia (MLL) gene have been analyzed for more than 20 yr at the molecular level. So far, we have collected about 80 direct MLL... -
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- Diagnosis of DMD/BMD by Multiplex PCR and Southern Blot Analysis
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Lee SH, Han JH, Kwak IP, Cha KE, Cho SW, Han SY, Keun KN, Park C, Cha KY
- KMID: 1924389
- Korean J Obstet Gynecol.
- 1997 May;40(5):1030-1036.
Duchene and Becker muscular dystrophy(DMD/BMD) results from mutations in thedystrophin gene, and enormous genetic locus that spans more than two million base paris ofDNA on the human X chromosome. ... -
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- A Case of Fabry's Disease with Congenital Agammaglobulinemia
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Lee KY, Jeon SY, Hong JW, Kim SE, Song KH, Kim YH, Kim KH
- KMID: 1094273
- J Korean Med Sci.
- 2011 Jul;26(7):966-970.
- doi: 10.3346/jkms.2011.26.7.966
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the alpha-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide... -
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- Molecular Analysis of X-linked Chronic Granulomatous Disease in Five Unrelated Korean Patients
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Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY
- KMID: 1733480
- J Korean Med Sci.
- 2004 Apr;19(2):218-222.
- doi: 10.3346/jkms.2004.19.2.218
Chronic granulomatous disease (CGD) is a fatal genetic disorder in which phagocytes fail to produce antimicrobial superoxide because of NADPH oxidase deficiency. Molecular defects in CYBB gene causing X-linked CGD... -
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- The Common NF-kappaB Essential Modulator (NEMO) Gene Rearrangement in Korean Patients with Incontinentia Pigmenti
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Song MJ, Chae JH, Park EA, Ki CS
- KMID: 2157858
- J Korean Med Sci.
- 2010 Oct;25(10):1513-1517.
- doi: 10.3346/jkms.2010.25.10.1513
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-kappa B essential... -
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- A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome
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Cho EH, Kim SY, Kim JK
- KMID: 1778839
- J Korean Med Sci.
- 2012 Oct;27(10):1273-1277.
- doi: 10.3346/jkms.2012.27.10.1273
Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill... -
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- Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea
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Kim SJ, Yoon JS, Baek HJ, Suh SI, Bae SY, Cho HJ, Ki CS
- KMID: 1713470
- J Korean Med Sci.
- 2008 Apr;23(2):328-331.
- doi: 10.3346/jkms.2008.23.2.328
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on... -
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- Clinicopathological features of Xp11.2 translocation renal cell carcinoma
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Lim B, You D, Jeong IG, Kwon T, Hong S, Song C, Cho YM, Hong B, Hong JH, Ahn H, Kim CS
- KMID: 2133289
- Korean J Urol.
- 2015 Mar;56(3):212-217.
- doi: 10.4111/kju.2015.56.3.212
PURPOSE: Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we... -
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- Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization
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Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH
- KMID: 2373761
- J Korean Med Sci.
- 2016 Aug;31(8):1307-1318.
- doi: 10.3346/jkms.2016.31.8.1307
X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties... -
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