- A case of trisomy 6p due to maternal balanced translocation
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Lee KW, Kim MK, Kim YS, Lee OK
- KMID: 2280785
- Korean J Perinatol.
- 2008 Sep;19(3):318-321.
Trisomy 6p is an extremely rare disorder, in fact approximately 42 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation... -
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- A Case with Partial Monosomy 6q and Partial Trisomy 14q Derived from Maternal Balanced Translocation
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Song EJ, Jang YY, Park HJ, Lee KH, Lee KH, Choi EJ, Kim JK, Chung HL, Seo ES, Kim WT
- KMID: 1980173
- Korean J Perinatol.
- 2009 Jun;20(2):163-166.
There are several cases of partial monosomy or partial trisomy derived from maternal balanced translocation, but partial monosomy 6q and partial trisomy 14q derived from maternal balanced translocation has not... -
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- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
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Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY
- KMID: 1096824
- Korean J Lab Med.
- 2010 Feb;30(1):84-88.
- doi: 10.3343/kjlm.2010.30.1.84
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital... -
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- High Frequency of Genetic Alterations in Non-small Cell Lung Cancer Detected by Multi-target Fluorescence In Situ Hybridization
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Kang JU, Koo SH, Kwon KC, Park JW, Shin SY, Kim JM, Jung SS
- KMID: 1785788
- J Korean Med Sci.
- 2007 Sep;22(Suppl):S47-S51.
- doi: 10.3346/jkms.2007.22.S.S47
Detection of genetic alterations could provide a tool as an adjuvant for the diagnosis of non-small cell lung cancer (NSCLC) and to define patients at risk for early relapse. In... -
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- False Homozygosity Results in HLA Genotyping due to Loss of Chromosome 6 in a Patient with Acute Lymphoblastic Leukemia
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Park H, Hyun J, Park SS, Park MH, Song EY
- KMID: 1781698
- Korean J Lab Med.
- 2011 Oct;31(4):302-306.
- doi: 10.3343/kjlm.2011.31.4.302
Loss of heterozygosity (LOH) in chromosome 6p has been reported in a number of tumors and some hematologic malignancies, including ALL. LOH in chromosome 6p, on which the HLA genes... -
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- Deletion of the Long Arm of Chromosome 6 Associated with Arachnoid Cyst and Brain Atropy
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Chae KY, Nam YH
- KMID: 2007266
- J Korean Child Neurol Soc.
- 1999 Dec;7(2):250-256.
Deletions of 6q chromosome are rare. Although 60 cases of deletions of the long arm of chromosome 6 have been reported in the literature, there was no reported case in... -
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- A Case of VATER association Variant with a 46, XY, inv (6)(q11q16) Inversion
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Park DH, Jung DB, Yang ES, Park YB, Park SK
- KMID: 2207973
- J Korean Pediatr Soc.
- 1998 Mar;41(3):396-400.
VATER association of vertebral defects, imperforate anus, tracheoesophageal (T-E) fistula with esiphageal atresia, and radial and renal dysplasia are utilized to identify this complex. Other anomalies are vascular anomalies (cardiac... -
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- Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)
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Jin HY, Choi JH, Kim GH, Yoo HW
- KMID: 2281327
- Korean J Pediatr.
- 2010 Mar;53(3):432-436.
- doi: 10.3345/kjp.2010.53.3.432
Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the... -
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- Loss of estrogen receptor-alpha (ER-alpha) and promoter hypermethylation in gastric cancer
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Woo IS, Moon DH, Kim SH, Im SH, Lee MA, Kang JH, Hong YS, Lee KS, Choi MK, Chung IS, Park GS
- KMID: 2252654
- Korean J Med.
- 2004 May;66(5):504-512.
BACKGROUND: The significance of ER expression and hormone manipulation in gastric cancer is not established. There have been several reports supporting the role of the ER gene as tumor suppressor... -
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