- 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 Pentasomy 21 With Two Isochromosome 21s in Acute Megakaryoblastic Leukemia Associated With Down Syndrome
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Park Y, Lim J, Ko YH, Kim J, Kwon GC, Koo SH
- KMID: 2363214
- Ann Lab Med.
- 2015 May;35(3):373-375.
- doi: 10.3343/alm.2015.35.3.373
No abstract available. -
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- Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma
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Yu N, Kim Y, Choi SE, Kim J, Kim YR, Choi JR, Lee KA
- KMID: 2172795
- Blood Res.
- 2014 Sep;49(3):200-203.
- doi: 10.5045/br.2014.49.3.200
No abstract available. -
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- Isochromosome 1q in Childhood Burkitt Lymphoma: The First Reported Case in Korea
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Rim JH, Kim HS, Shin S, Park SJ, Choi JR
- KMID: 2363276
- Ann Lab Med.
- 2015 Nov;35(6):663-665.
- doi: 10.3343/alm.2015.35.6.663
No abstract available. -
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- A Case of Dysgenetic Male Pseudohermaphroditism Associated with Dicentric Y Isochromosome
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Lee SW, Kim CI, Lee SC, Kim SY, Lee IW
- KMID: 1912449
- Korean J Urol.
- 1987 Aug;28(4):593-597.
Dysgenetic male pseudohermaphroditism associated with a chromosomal abnormality is a disorder of sexual differentiation resulting from a defect in normal testicular differentiation during embryogenesis. Patients with this disorder present with... -
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- A case of isochromosome Xq Turner syndrome associated with metabolic syndrome and autoimmune thyroiditis
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Choi JW, Byun JW, Lee Y, Shim MS, Shin YG, Chung CH
- KMID: 2252747
- Korean J Med.
- 2003 Nov;65(Suppl 3):S777-S781.
Autoimmune thyroiditis in Turner syndrome is more prevalent in women with the X isochromosome karyotype, compared with other karyotypes. The cause of obesity in Turner syndrome is not to be... -
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- 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 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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- A Novel Case of Extreme Thrombocytosis in Acute Myeloid Leukemia Associated With Isochromosome 17q and Copy Neutral Loss of Heterozygosity
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You E, Cho SY, Yang JJ, Lee HJ, Lee WI, Lee J, Cho KS, Cho EH, Park TS
- KMID: 2363212
- Ann Lab Med.
- 2015 May;35(3):366-369.
- doi: 10.3343/alm.2015.35.3.366
No abstract available. -
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- Two Cases of Kabuki Make-up Syndrome Including One Case Associated with Xq Isochromosome
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Cho KH, Lee JH, Lee KH, Lee KC, Choung JT, Son CS, Tockgo YC
- KMID: 2207501
- J Korean Pediatr Soc.
- 2000 Aug;43(8):1111-1115.
Kabuki make-up syndrome(KMS) is characterized by mental and developmental retardation and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows, resembling... -
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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 of Acute Lymphoblastic Leukemia with ider(9)(q10)t(9;22)(q34;q11.2)
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Huh J, Chung W
- KMID: 2238891
- Korean J Lab Med.
- 2006 Jun;26(3):223-226.
- doi: 10.3343/kjlm.2006.26.3.223
ider(9)(q10)t(9;22)(q34;q11.2) is an isochromosome for the long arm of a derivative chromosome 9 generated by a t(9;22), resulting from the deletion of the short arm of chromosome 9. It is... -
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- A Case of Trisomy 10p with Vertebral Anomaly and Hypospadias
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Kim HS, Baek SC, Kim CH
- KMID: 1838163
- Korean J Perinatol.
- 2003 Dec;14(4):427-432.
Tisomy 10p syndrome is a rarely reported chromosomal abnormality with distinct craniofacial anomalies, severe growth and psychomotor retardation, osteoarticular anomalies, and organ malformations. Most of reported cases were due to... -
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- Detection of the Pallister-Killian Syndrome by G-Banding and FISH in Cultured Skin Fibroblasts
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Han JY, Kim TG, Shaffer LG, FACMG
- KMID: 2089519
- Korean J Clin Pathol.
- 1998 Jun;18(2):284-287.
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, however, tissue cultures show varying... -
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- Medulloblastoma: Does the Isochromosome 17q Influence on the Long Term Survival?
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Nam DH, Wang KC, Kim SK, Chi JG, Kim YM, Cho BK
- KMID: 1956080
- J Korean Neurosurg Soc.
- 1999 Sep;28(9):1312-1315.
OBJECTIVE: An isochromosome for the long arm of 17, i(17q), is the most frequent chromosomal abnormality in medulloblastoma, occurring in 30-60% of cases by karyotype analysis and this abnormality has... -
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- A Case of Bone Marrow Involvement of Hepatosplenic gamma delta-Cell Lymphoma
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Lee SK, Woo HY, Park Q, Kim SH, Lee HG, Ko YH
- KMID: 2083441
- Korean J Hematol.
- 2002 May;37(2):134-137.
Hepatosplenic gamma delta-cell lymphoma is a rare histologic type of peripheral T-cell lymphomas, clinically characterized by predominant involvement of liver and spleen, no or little adenopathy, and an often aggressive... -
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- Identification of an i(21q) by Using Dinucleotide Repeat Polymorphisms
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Kim KH, Kim TG, Han JY, Kim JM, Park JI, Kim IH
- KMID: 2039333
- Korean J Clin Pathol.
- 1997 Feb;17(1):183-189.
BACKGROUND: Recent DNA polymorphism analysis using numerous DNA markers has been used to determine the parental origin of the extra chromosome 21 in Down syndrome. In this study we used... -
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- Development of Acute Megakaryoblastic Leukemia with Isochromosome (12p) after a Primary Mediastinal Germ Cell Tumor in Korea
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Yu N, Kim HR, Cha YJ, Park EK, Kim JW
- KMID: 1777851
- J Korean Med Sci.
- 2011 Aug;26(8):1099-1102.
- doi: 10.3346/jkms.2011.26.8.1099
The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently... -
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- A Case of Acute Myeloid Leukemia with Bone Marrow Basophilia and Dysmegakaryocytic Hyperplasia with Isochromosome 17q as a Sole Cytogenetic Abnormality: A Clinical Study with Literature Review
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Lee HJ, Kim IS, Lee SM, Chang CL, Lee EY, Chung JS
- KMID: 2312209
- Lab Med Online.
- 2012 Oct;2(4):215-222.
A new clinico-pathological entity in which isochromosome 17q is the sole abnormality has been reported in myelodysplastic syndrome and in myeloproliferative neoplasm with an aggressive course; In particular, myelodysplastic syndrome... -
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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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