- Ankylosing spondylitis associated with balanced reciprocal X-1 translocation
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Kim YH, Lee JO
- KMID: 2400333
- Yeungnam Univ J Med.
- 2017 Jun;34(1):80-83.
- doi: 10.12701/yujm.2017.34.1.80
A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came... -
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- Molecular Biology of Childhood Acute Myeloid Leukemia with Emphasis on Chromosomal Translocation
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Hayashi Y
- KMID: 2278175
- Korean J Pediatr Hematol Oncol.
- 1999 Oct;6(2):199-205.
No available abstract. -
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- Recent Trends in Preimplantation Genetic Diagnosis (PGD)
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Kim JY, Kang IS
- KMID: 2272722
- Korean J Obstet Gynecol.
- 2005 Nov;48(11):2493-2509.
Preimplantation genetic diagnosis (PGD) provides practical option to prevent the termination of pregnancy and miscarriage in couples with high risk of genetic disease or recurrent spontaneous abortion. In balanced chromosomal... -
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- The incidence of fetal chromosomal abnormalities in recurrent miscarriage couples with balanced translocation
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Park SY, Kim KH, Choi BC, Kang IS, Yang KM, Yoo KJ, Song IO
- KMID: 2262037
- Korean J Obstet Gynecol.
- 2000 Jul;43(7):1189-1193.
OBJECTIVES: The most common chromosomal abnormality contributing to recurrent abortion is the balanced chromosomal translocation. However the exact incidence of fetal losses are still unknown. The objectives of this study were to... -
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- Xp11.2 translocation renal cell carcinoma in the autosomal dominant polycystic kidney disease patient with preserved renal function
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Huh H, Jo HA, Yi Y, Kim SH, Moon KC, Ahn C, Park HC
- KMID: 2396774
- Korean J Intern Med.
- 2017 Nov;32(6):1108-1111.
- doi: 10.3904/kjim.2014.133
No abstract available. -
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- Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation
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Lim HH, Jeong HJ, Park KD, Kim SJ
- KMID: 1855958
- Korean J Pediatr.
- 2005 Jul;48(7):701-705.
PURPOSE: Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their... -
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- A Case of Acute Promyelocytic Leukemia with PML/RARA Translocation Showing Familial t(9;15)(q34;q22)
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Shin SY, Koo SH, Kwon KC, Park JW, Ko CS, Jo DY
- KMID: 2252232
- Korean J Hematol.
- 2007 Dec;42(4):428-432.
- doi: 10.5045/kjh.2007.42.4.428
We report the unusual case of an APL patient with a familial t(9;15)(q34;q22) and acquired t(15;17) (q22;q21). This is unique in that the patient had a constitutional abnormality with the... -
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- Understanding of molecular pathogenesis and genetic markers in colorectal cancer
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Kim YH
- KMID: 2259110
- Korean J Med.
- 2010 Aug;79(2):113-118.
Colorectal cancers results from the progressive accumulation of genetic and epigenetic alterations that lead to cellular transformation and tumor progression. Genomic instability, including chromosomal translocations and microsatellite instability, plays a... -
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- Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation
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Choi BH, Kim UH, Lee KS, Ko CW
- KMID: 2266361
- Ann Pediatr Endocrinol Metab.
- 2013 Sep;18(3):111-115.
- doi: 10.6065/apem.2013.18.3.111
PURPOSE: 45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female... -
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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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- A Case of Acute Promyelocytic Leukemia with a De novo t(11;19) Chromosomal Translocation
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Cho SY, Kim JY, Heo JY, Lee SJ, Han CW, Lee JH
- KMID: 2258902
- Korean J Med.
- 2011 Jun;80(Suppl 2):S268-S272.
Acute promyelocytic leukemia (APL), which is usually defined by the morphological features of the leukemic cells, is characterized by the t(15;17) (q22;q21) chromosomal translocation and disseminated intravascular coagulation. This specific... -
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- An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening
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Chang LJ, Chen SU, Tsai YY, Hung CC, Fang MY, Su YN, Yang YS
- KMID: 1973528
- Clin Exp Reprod Med.
- 2011 Sep;38(3):126-134.
- doi: 10.5653/cerm.2011.38.3.126
Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can... -
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- Prevalence of Balanced Chromosomal Translocations in Couples with Abnormal Reproductive Outcomes and Prenatal Cytogenetic Diagnosis in the Carriers
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Park SY, Kang IS, Ryu HM, Jun JY, Lee MH, Kim JM, Choi SK
- KMID: 2235774
- Korean J Fertil Steril.
- 1997 Dec;24(3):393-398.
Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization... -
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- Fusion of the PLAG1 and CTNNB1 genes in pleomorphic adenoma of the salivary glands
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Kim JJ, Kim ES, Ko SO, Kim HB, Cho NP
- KMID: 2137007
- J Korean Assoc Oral Maxillofac Surg.
- 2003 Aug;29(4):206-211.
The pleomorphic adenoma is the most common neoplasm involving both the major and minor salivary glands. It is a benign, slowgrowing tumor, but local recurrences can occur. The pleomorphic adenoma... -
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- 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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- A Study on the Translocation of Human Chromosome
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Baek EK, Lee YS, Park JK, Kim JH, Jeong YJ, Kim KS, Song CH, Oh BC, Jin SJ, Kim JD
- KMID: 1982309
- Korean J Perinatol.
- 2002 Jun;13(2):128-134.
OBJECTIVE: The aim of this study was to evaluate the relation between the chromosomal translocation and the outcome of pregnancy. METHODS: Between 1989 and 2001, 26 translocation carriers have been... -
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- A Case of the Carrier of Reciprocal Translocation Which was Inherited from Patient with Recurrent Spontaneous Abortion
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Nam YS, Kim NK, Jeong CJ, Cha SH, Cha KY
- KMID: 2262497
- Korean J Obstet Gynecol.
- 2001 Dec;44(12):2348-2351.
A balanced translocation in a parent may produce unbalanced gametes leading to abortions or defective liveborn children, or interval infertility. It also may give rise to a balanced gamete resulting... -
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- A Novel Translocation t(1;5)(p32;q31) that Was Not Associated with the TAL1 Rearrangement in a Case of T Lymphoblastic Leukemia/Lymphoma
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Cho HS, Kim MK, Bae YK
- KMID: 1096970
- Korean J Lab Med.
- 2009 Jun;29(3):199-203.
- doi: 10.3343/kjlm.2009.29.3.199
Chromosome 1 band p32 (1p32) aberrations are common in T lymphoblastic leukemia/lymphoma (T-ALL/LBL). Two types of 1p32 aberrations include translocations with different partners and submicroscopic interstitial deletion. Both aberrations are... -
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- Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
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Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ
- KMID: 2435965
- J Genet Med.
- 2018 Jun;15(1):8-12.
- doi: 10.5734/JGM.2018.15.1.8
PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS:... -
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- Acute Lymphoblastic Leukemia with Chromosomal Translocation t (5; 14) (q31; q32) and Hypereosinophilia in a Child
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Lee KA, Lee JS, Sin KS, Bae IH, Lee SH, Park HJ
- KMID: 2278339
- Korean J Pediatr Hematol Oncol.
- 2005 Apr;12(1):108-113.
Hypereosinophilia has been associated with a variety of underlying disorders such as parasitic, fungal and mycobacterial infections, allergic disorders, collagen vascular diseases, or hypereosinophilic syndrome (HES). The association of acute... -
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