- A Case of Tetrasomy 9P
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Joo JH, Joo HS, Seo SS, Park SJ
- KMID: 2188805
- J Korean Soc Neonatol.
- 1997 Jun;4(1):72-76.
Supernumerary isochromosome resulting in autosomal tetrasomy are rare and have been described only for 12P, 18P, and 9P. Tetrasomy 9P, initially described by Ghymer et al, is a rare chromosomal... -
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- A Case of 9p Tetrasomy Associated with Hydrocephalus due to Hypertrophy of Choroid Plexus
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Kim CH, Yang EJ, Nam SO, Kim SY
- KMID: 2007254
- J Korean Child Neurol Soc.
- 1999 Oct;7(1):119-123.
9p Tetrasomy is rare chromosomal aberration that was described in approximately 30 previous patients in the world and this is the first described in Korea. Here we report a 3... -
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- A Case of Tetrasomy 12p Diagnosed Prenatally
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Lee KS, Lee SY, Park HJ, An HS, Park SJ, Han JY
- KMID: 2272353
- Korean J Obstet Gynecol.
- 2004 May;47(5):1001-1005.
Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following... -
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- A case report of prenatally diagnosed tetrasomy 18p
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Jung PS, Won HS, Cho IJ, Hyun MK, Shim JY, Lee PR, Kim A
- KMID: 2313947
- Obstet Gynecol Sci.
- 2013 May;56(3):190-193.
Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction... -
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- A Case of Pallister-Killian Syndrome
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Lee JS, Kim SH, Choi JA, Nam SY, Kim SY
- KMID: 2207680
- J Korean Pediatr Soc.
- 2000 Feb;43(2):274-277.
Since Pallister first described 12p tetrasomy syndrome in 1977, approximately 50 patients have been described. Chromosomal study of lymphocyte is normal in most cases, but fibroblasts usually reveal 12p tetrasomy... -
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- Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome
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Lee MN, Lee J, Yu HJ, Lee J, Kim SH
- KMID: 2373617
- Ann Lab Med.
- 2017 Jan;37(1):66-70.
- doi: 10.3343/alm.2017.37.1.66
Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having... -
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- Myeloid Sarcoma and Acute Myelomonocytic Leukemia in an Adolescent with Tetrasomy 8: Staging with 18F-FDG PET/CT
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Makis W, Rakheja R, Lavoie J, Hickeson M
- KMID: 2052008
- Nucl Med Mol Imaging.
- 2012 Jun;46(2):119-124.
Tetrasomy 8 is a relatively rare chromosomal abnormality that has been reported in only 33 cases in hematologic disorders. It is known for its association with aggressive acute myeloid leukemia... -
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- Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
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Ko JM, Kim JB, Pai KS, Yun JN, Park SJ
- KMID: 1792906
- J Korean Med Sci.
- 2010 Dec;25(12):1798-1801.
- doi: 10.3346/jkms.2010.25.12.1798
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome.... -
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- Numerical aberrations of chromosome 17 and her2/neu gene amplification, her2/neu and p 53 protein expression in breast cancer
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Han KT, Oh YH, Lim P
- KMID: 2119492
- J Korean Soc Plast Reconstr Surg.
- 1998 Dec;25(8):1416-1425.
Breast cancer is one of the leading causes of death attributable to cancer in women. In view of the limitations of conventional predictable factors of the breast cancer, additional second-generation... -
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- Identification of marker chromosomes by reverse painting fluorescence in situ hybridization and comparative genomic hybridization
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Kang JK, Cho YH, Kyhm JH, Shin ES, Hoh JK, Chung SR
- KMID: 2272680
- Korean J Obstet Gynecol.
- 2005 Sep;48(9):2125-2139.
OBJECTIVE: Although marker chromosome is defined as an abnormal chromosome in which no part can be identified, derivative chromosomes with structural abnormalities of unknown origin are also called as marker... -
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- Microcystic Meningiomas: Its Immunohistochemical and Genetic Aspect
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Koo SK, Han JY, Kim SJ, Kim KU
- KMID: 2067218
- J Korean Neurosurg Soc.
- 2006 Feb;39(2):136-140.
The authors report three microcystic meningiomas with its characteristic immunohistochemical findings and chromosomal pattern. Three patients with surgically treated microcystic meningioma were studied for its radiological, histopathological findings, and chromosomal... -
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