- Monosomy 21 Mosaicism in a Child with Dyserythropoiesis
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Lim JY, Seo JH, Choi MB, Park CH, Woo HO, Youn HS
- KMID: 2207062
- J Korean Pediatr Soc.
- 2003 Apr;46(4):397-399.
All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating... -
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- Nager Syndrome associated with 45,X Monosomy
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Chung JH, Chi JG
- KMID: 1963056
- J Genet Med.
- 1997 Sep;1(1):1-4.
Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this... -
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- A Case of Childhood Acute Lymphoblastic Leukemia with Monosomy 20 and Parotid Gland Involvement
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Kim HR, Hong SA, Choe BK, Kim HS, Ha JS, Jeon DS, Kang YN
- KMID: 2279497
- Korean J Pediatr.
- 2004 Dec;47(12):1347-1350.
Hypodiploidy exists in 3-15% of patients with childhood acute lymphoblastic leukemia(ALL) and is associated with a poor prognosis. Monosomy 7 and monosomy 20 account for most karyotypic abnormalities in patients... -
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- Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet's Disease
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Kim JY, Lee KH, Lee SC, Lee JY
- KMID: 1441721
- Clin Pediatr Hematol Oncol.
- 2012 Apr;19(1):40-43.
We describe an 18 year old female with monosomy 22 mosaicism and thrombocytopenia. She had some unique facial appearance such as small eyes and thin lip, similar to those with... -
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- A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)
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Lee SY, Cho SM
- KMID: 1606978
- J Korean Pediatr Soc.
- 2003 Aug;46(8):831-835.
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome... -
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- A Case of 45 , X/47 , XXX Turner Syndrome Which has Experienced Pregnacy and Premature Ovarian Failure
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Nam YS, Lee SH, Kwak IP, Yoon TK, Cha KY
- KMID: 2261078
- Korean J Obstet Gynecol.
- 1998 Jul;41(7):1988-1992.
Sex chromosome monosomy occurs as monosomy X or Turner syndrome (45,X). Monosomy X is prenatally lethal in most cases, occuring in many cytogenetically abnormal spontaneous abortions. The incidence of monosomy... -
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- A Case of Monosomy 7 Syndrome Transformed into Acute Myelocytic Leukemia
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Cho HS, Kim HM, Park SW, Won DI, Lyu CJ, Kim KY
- KMID: 2278192
- Korean J Pediatr Hematol Oncol.
- 1999 Oct;6(2):352-357.
Monosomy 7 syndrome is a rare myeloproliferative disorder of children, and has a clinical presentation similar to JCML. Both syndromes present in children younger than 2 years of age.... -
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- The Prognostic Significance of Chromosome 18 Monosomy in the Colon Cancer: Correlations with the Expressions of Smad4 and TGF-beta Receptor II Proteins
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Choi YS, Lim HM, Kim BG, Lee TJ
- KMID: 2211101
- J Korean Surg Soc.
- 2007 Sep;73(3):227-234.
PURPOSE: Chromosomal instability of chromosome 18 and inhibition of the transforming growth factor beta (TGF-beta) signaling pathway, which is mediated through Smad4, play important roles in the tumorigenesis of colon... -
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- A De Novo Unbalanced Translocation t (5;7) (q33;p22) Carrying Partial Trisomy 5q and Partial Monosomy 7p
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Han JY, Kim KH, Hwang KG, Shaffer LG
- KMID: 2225886
- Korean J Clin Pathol.
- 1999 Jun;19(3):364-367.
Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly,... -
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- Acute Lymphoblastic Leukemia with Philadelphia Chromosome and Monosomy 7
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Choi GJ, Chun HJ, Jeon DS, Kim JR, Hyun MS
- KMID: 2089438
- Korean J Clin Pathol.
- 1997 Aug;17(4):519-529.
BACKGROUND: The combination of Philadelphia chromosome (Ph) and monosomy 7(-7) was rarely observed in acute lymphoblastic leukemia (ALL). With the results from immunophenotyplc and molecular analysis, Philadelphia chromosome positive ALL... -
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- A Case of Myeloid Blast Crisis of Atypical Chronic Myelogenous Leukemia
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Cho HS, Lee CH, Kim KD, Lee KH, Bae SH, Cho D, Ryang DW
- KMID: 2252410
- Korean J Hematol.
- 2003 Aug;38(3):200-204.
Atypical chronic myelogenous leukemia (aCML) has dysplastic as well as proliferative features in most instance and rarely evolves to blast crisis, so it is considered as a distinct clinical entity... -
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- Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report
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Lee YH, Ahn JM, Koo DH, Kwon KW, Lee YK, Lee HH, Nam KH, Lee KH
- KMID: 1099804
- J Korean Med Sci.
- 2003 Feb;18(1):112-113.
- doi: 10.3346/jkms.2003.18.1.112
We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long... -
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- Detection Limit of Minimal Residual Disease in Leukemia Using Fluorescence in situ Hybridization
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Lee JH, Kim SY, Kim HH, Suh BK, Lee WB, Whang KT
- KMID: 1967595
- J Korean Pediatr Soc.
- 2000 Oct;43(10):1364-1371.
PURPOSE: The close relationship between the size of a tumor burden and the curability of acute leukemia is well established. Therefore, it is very irnportant to detect residual leukemia accurately at low... -
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- Cytogenetic Analysis of Squamous Cell Carcinoma of the Lung
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Jo SJ
- KMID: 2030733
- Korean J Anat.
- 1997 Oct;30(5):567-574.
The cytogenetic study of 3 cases of squamous cell carcinoma of the lung was performed to identify chromosomal abnormalities. All tumor cells were hypodiploid state on the average. Specicfic chromosomal... -
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- Hematologic and Clinical Features of 3q21q26 Syndrome: Extremely Poor Prognosis and Association with Central Diabetes Insipidus
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Chung HJ, Seo EJ, Kim KH, Jang S, Park CJ, Chi HS, Lee JH, Lee JH, Lee KH
- KMID: 1781473
- Korean J Lab Med.
- 2007 Apr;27(2):133-138.
- doi: 10.3343/kjlm.2007.27.2.133
BACKGROUND: 3q21q26 syndrome includes chromosomal abnormalities of inv(3)(q21q26), t(3;3) (q21;q26), and ins(3;3)(q26;q21q26). It causes hematological diseases by the leukemogenic mechanism that the enhancer of ribophorin I gene in 3q21... -
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- Cytogenetic Findings in Patients with Acquired Aplastic Anemia
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Lee KA, Kim SH
- KMID: 2226035
- Korean J Clin Pathol.
- 2001 Aug;21(4):240-245.
BACKGROUND: Cytogenetic abnormalities have been described in a few patients with otherwise typical aplastic anemia, and the possible clonal nature of this disease is a controvertial issue. METHODS: We analyzed... -
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- Application of FISH(Fluorescence In Situ Hybridization) in uncultured chorionic villus cells
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Chang EJ, Hwang DY, Choi HS, Cheong KS, Kim KC, Choe J, Choi YM, Moon SY
- KMID: 2261838
- Korean J Obstet Gynecol.
- 2000 Feb;43(2):248-253.
OBJECTIVE: The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy... -
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- A Case of Trisomy 13q and Monosomy 17p Due to an Adjacent-2 Segregation of Maternal Reciprocal Translocation
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Lee JH, Kim KH, Kim DL, Kim MH, Choi YY, Juhng SW, Choi C
- KMID: 2172407
- Chonnam Med J.
- 2001 Dec;37(4):415-419.
We report a boy with a trisomy of chromosome 13q and monosomy of chromosome 17p due to an adjacent segregation-2 of maternal reciprocal translocation. At age of one month and... -
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- Erythroleukemia Relapsing as Precursor B-cell Lymphoblastic Leukemia
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Park BG, Park CJ, Jang S, Seo EJ, Chi HS, Lee JH
- KMID: 1094344
- Korean J Lab Med.
- 2011 Apr;31(2):81-85.
- doi: 10.3343/kjlm.2011.31.2.81
AML relapsing as ALL has rarely been reported. We describe the case of a 62-yr-old man who was diagnosed with erythroleukemia with a complex karyotype and achieved complete hematologic and... -
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- A Case of 45,X Turner's Syndrome with Iron Deficiency Anemia due to Menometrorrhagia and Spontaneous Sexual Development
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Kwon MK, Chon S, Koh GP, Oh SJ, Woo JT, Kim SW, Kim JW, Kim YS
- KMID: 2331197
- J Korean Soc Endocrinol.
- 2005 Apr;20(2):160-167.
Short stature and gonadal dysgenesis are two characteristic clinical features of Turners syndrome. Very rarely, patients with Turners syndrome may menstruate and even be fertile. We experienced a case of... -
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