- A Case of Split Hand Split Foot Malformation Associated with Pericentric Inversion of Chromosome 9
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Ko HY, Kim TY, Park HJ, Lee KH, Choi EJ, Kim JK, Chung HL, Kim WT
- KMID: 2280588
- Korean J Perinatol.
- 2006 Sep;17(3):334-339.
Split hand split foot malformation (SHFM) is a human developmental disorder characterized by a deep median cleft in the hands and feet, missing digits, and fusion of the remaining digits.... -
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- Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family
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Min SA, Lim SW, Kim YS, Lee OK
- KMID: 2335660
- J Korean Pediatr Soc.
- 2002 Jul;45(7):917-922.
An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation... -
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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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- Constitutional Chromosomal Abnormality Identified in a Sibling Donor After Bone Marrow Stem Cell Transplantation in a Pediatric Patient with Acute Megakaryoblastic Leukemia
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Seo BY, Choi HW, Kang MG, Cho D, Kee SJ, Kim SH, Shin JH, Suh SP, Ryang DW, Shin MG
- KMID: 2363169
- Ann Lab Med.
- 2015 Jan;35(1):162-164.
- doi: 10.3343/alm.2015.35.1.162
No abstract available. -
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- Combined Genome-Wide Linkage and Association Analyses of Fasting Glucose Level in Healthy Twins and Families of Korea
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Suh YJ, Kim S, Kim SH, Park J, Lim HA, Park HJ, Choi H, Ng D, Lee MK, Nam M
- KMID: 1786940
- J Korean Med Sci.
- 2013 Mar;28(3):415-423.
- doi: 10.3346/jkms.2013.28.3.415
This study was undertaken to identify genetic polymorphisms that are associated with the risk of an elevated fasting glucose (FG) level using genome-wide analyses. We explored a quantitative trait locus... -
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- A Case of Prader-Willi Syndrome with an Unusually Large 15q Deletion Due to an Unbalanced Translocation to Chromosome 2 45,XX,-15, der(2) t(2;15)(q37:q13)
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Kim JK, Paek H, Yoo EJ, Jung K, Sun KK, Kim EY, Kim KS, Kim YW, Kim YS
- KMID: 1750726
- J Korean Soc Neonatol.
- 2007 Nov;14(2):247-252.
Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70%... -
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- A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome
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Lee JH, Cho HS, Lee ES, Jung BC
- KMID: 1781633
- Korean J Lab Med.
- 2010 Jun;30(3):312-317.
- doi: 10.3343/kjlm.2010.30.3.312
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is... -
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- First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome
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Yu N, Shin S, Lee KA
- KMID: 2363196
- Ann Lab Med.
- 2015 Mar;35(2):275-278.
- doi: 10.3343/alm.2015.35.2.275
No abstract available. -
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- Construction and Analysis of Painting Probe for Homogeneously Staining Regions in Human Neuroblastoma Cell line IMR-32
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Park SH, Kim HC, Chun YH
- KMID: 1963064
- J Genet Med.
- 1997 Sep;1(1):45-50.
Painting probe for HSRs in IMR-32 Neuroblastoma, a pediatric malignant neoplasm of neural crest origin, has a wide range of clinical virulence. The mechanisms contributing to the development of neuroblastomas... -
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- A Balanced Translocation t (2:18) (p23:q23) in the Family
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Gwon O, Jung O, Seo S, Park S
- KMID: 1898291
- J Korean Soc Neonatol.
- 2000 Nov;7(2):199-202.
It has been estimated that chromosomal abnormality occurs in 0.4% of live births. A balanced translocation between chromosome 2 and 18, t (2;18) (p23;q23), is extremely rare. We report a... -
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- A Case of 2q-Syndrome [46, XX, del (2) (q33q35)]
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Choi DH, Seol EY, Cho MK, Shon C
- KMID: 2099019
- J Korean Soc Neonatol.
- 2000 May;7(1):64-67.
A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand... -
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- A Case of 2q+ Syndrome Identified by Fluorescent In Situ Hybridization
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Lim HH, Park SS, Lee JW, Kim ER, Jin MU, Park NS, Kim IS
- KMID: 2335356
- J Korean Pediatr Soc.
- 1998 Aug;41(8):1144-1148.
We experienced a case of 2q+ syndrome in a neonate who had multiple congenital anomalies of long philtrum, a bow-shaped mouth, long fingers, and its second and fifth fingers overlapped... -
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- A Case of Carney Complex
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Lim SK, Cha BS, Song YD, Lee HC, Huh KB, Kim KR, Won YJ, Kwon SH, Lee RT, Chung BY, Lee KK
- KMID: 2331094
- J Korean Soc Endocrinol.
- 1997 Dec;12(4):633-641.
Carney Complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, spotty pigmentations and schwannomas. The criteria for diagnosis of the complex... -
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- A Case of Partial Long Arm Deletion in Chromosome 2 with Multiple Anomalies
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Lee JU, Lee DH, Kim CS, Lee SL, Kim JS, Kwon TC, Ha JS, Lee HJ
- KMID: 2099046
- J Korean Soc Neonatol.
- 2002 Nov;9(2):220-225.
Partial long arm deletion in chromosome 2 is a rare disease in world-wide. The disease is characterized by multiple anomalies of craniofacial, extremities, cardiovascular system, hypotonia and mental retardation. We... -
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- Genome-Wide Association Study of Orthostatic Hypotension and Supine-Standing Blood Pressure Changes in Two Korean Populations
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Hong KW, Kim SS, Kim Y
- KMID: 2009105
- Genomics Inform.
- 2013 Sep;11(3):129-134.
- doi: 10.5808/GI.2013.11.3.129
Orthostatic hypotension (OH) is defined by a 20-mm Hg difference of systolic blood pressure (dtSBP) and/or a 10-mm Hg difference of diastolic blood pressure (dtDBP) between supine and standing, and... -
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- Patient Characteristics and Treatment of Hallux Polydactyly Associated with Varus Deformity
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Ro DH, Chung MS, Baek GH, Lee HJ, Song CH, Kim H, Gong HS
- KMID: 1439985
- J Korean Orthop Assoc.
- 2012 Feb;47(1):1-8.
- doi: 10.4055/jkoa.2012.47.1.1
PURPOSE: To evaluate patient characteristics such as deformity type, associated disease, and family history, and results of treatment of pre-axial polydactyly with hallux varus deformity. MATERIALS AND METHODS: We carried out... -
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- Analysis of Genetic Instability in Primary Cervical Carcinoma
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Seo SS, Park NH, Roh JW, Kim JW, Park HY, Song YS, Kim YS, Kang SB, Lee HP
- KMID: 2083766
- Korean J Gynecol Oncol Colposc.
- 2001 Jun;12(2):96-103.
OBJECTIVE: The aim of this study is to investigate the incidence of genetic instability, defined as microsatellite instability (MI) or loss of heterozygosity (LOH) in cervical carcinoma and its relationship... -
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- X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
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Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P
- KMID: 2397560
- J Bone Metab.
- 2017 Nov;24(4):257-261.
- doi: 10.11005/jbm.2017.24.4.257
There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion... -
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- Genome-Wide Association Study of Lung Cancer in Korean Non-Smoking Women
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Kim JH, Park K, Yim SH, Choi JE, Sung JS, Park JY, Choi YY, Jeon HS, Park JY, Yoon HK, Kim YH, Yoo BS, Kim YT, Hu HJ, Chung YJ, Kim H, Sung SW, Hong YC
- KMID: 2158030
- J Korean Med Sci.
- 2013 Jun;28(6):840-847.
- doi: 10.3346/jkms.2013.28.6.840
Lung cancer in never-smokers ranks as the seventh most common cause of cancer death worldwide, and the incidence of lung cancer in non-smoking Korean women appears to be steadily increasing.... -
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