- Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of De Novo 18p Deletion Syndrome with SensorineuralHearing Loss: A case report
-
Kim SH, Hong JY, Yim SY
- KMID: 2325199
- J Korean Acad Rehabil Med.
- 2008 Oct;32(5):591-594.
Chromosome 18p deletion syndrome is one of the most frequent autosomal abnormalities with more than 150 reported cases in the world and 7 reported cases in South Korea. Frequent clinical... -
- CITED
-
- Close
- SHARE
-
- Close
- Rarely Observed Jumping Translocation in Spontaneous Abortion
-
Lee YW, Lee BY, Park JY, Choi EY, Oh AR, Lee SY, Ryu HM, Kang IS, Yang KM, Park SY
- KMID: 2135616
- J Genet Med.
- 2010 Jun;7(1):82-86.
Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only... -
- CITED
-
- Close
- SHARE
-
- Close
- Detection of Down Syndrome & Edward Syndrome in uncultured amniocytes using FISH ( Fluorescence In Situ Hybridization
-
Moon SY, Choi J, Hwang DY, Choi YM, Chang EJ, Cheong KS, Kim KC, Min EG, Lee JY
- KMID: 2026751
- Korean J Obstet Gynecol.
- 1998 Nov;41(11):2859-2863.
FISH is suggested as a possible method to detect the numerical and structural abnormalities of chromosomes in interphase nucleus. We performed this study to discuss the clinical usefulness of FISH... -
- CITED
-
- Close
- SHARE
-
- Close
- Role of multicolor fluorescence in situ hybridization (FISH) in simultaneous detection of probe sets for chromosome 18, X and Y in uncultured amniotic fluid cells
-
Kim JI, Rhee JH
- KMID: 1731319
- J Korean Med Sci.
- 1999 Aug;14(4):438-442.
- doi: 10.3346/jkms.1999.14.4.438
Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients
-
Choung H, Kim YA, Kim N, Lee MJ, Khwarg SI
- KMID: 2363801
- Korean J Ophthalmol.
- 2015 Oct;29(5):285-293.
- doi: 10.3341/kjo.2015.29.5.285
PURPOSE: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported.... -
- CITED
-
- Close
- SHARE
-
- Close
- A case report of prenatally diagnosed tetrasomy 18p
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Cytogenetic Study in 535 Couples with Recurrent Spontaneous Abortions in Korea
-
Hwang HS, Yang ES, Hong WK, Kim MS, Yang YH
- KMID: 2085169
- Korean J Fertil Steril.
- 2005 Jun;32(2):113-120.
OBJECTIVE: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions... -
- CITED
-
- Close
- SHARE
-
- Close
- A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)
-
An GH, Kim MY, Kim MH, Kim YY, Choi KH, Kwak DW, Park SY, Lee BY, Park JY, Ryu HM
- KMID: 1428903
- J Genet Med.
- 2012 Dec;9(2):101-103.
- doi: 10.5734/JGM.2012.9.2.101
Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks... -
- CITED
-
- Close
- SHARE
-
- Close
- Rapid Prenatal Detection of Down and Edwards Syndromes by Fluorescent Polymerase Chain Reaction with Short Tandem Repeat Markers
-
Yoon HR, Park YS, Kim YK
- KMID: 1728847
- Yonsei Med J.
- 2002 Oct;43(5):557-566.
- doi: 10.3349/ymj.2002.43.5.557
-
- CITED
-
- Close
- SHARE
-
- Close
- A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis
-
Kim YJ, Park TS, Han MY, Yoon HS, Choi YS
- KMID: 2363195
- Ann Lab Med.
- 2015 Mar;35(2):272-274.
- doi: 10.3343/alm.2015.35.2.272
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- The utility of an erythroblast scoring system and gender-independent short tandem repeat (STR) analysis for the detection of aneuploid fetal cells in maternal blood
-
Lee KJ, Lee CN, Lee SH, Park JH, Kim JY, Lee KJ, Han WB, Chung CJ, Park YW, Kim SK, Kim JW, Cha DH
- KMID: 2077515
- Korean J Obstet Gynecol.
- 2005 Dec;48(12):2820-2827.
OBJECTIVE: The aim of this study was to determine whether fetal nucleated red blood cells (NRBCs) could be distinguished from maternal cells in peripheral blood using an erythroblast scoring system.... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of 18p- Syndrome
-
Kim JT, Cho BS, Lee CH, Ahn CI, Ju KS
- KMID: 2011641
- J Korean Pediatr Soc.
- 1981 Jun;24(6):589-591.
We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both... -
- CITED
-
- Close
- SHARE
-
- Close
- Partial trisomy of chromosome 18q11.2-q12: A case report
-
Cho AR, Kim HR, Lee MK, Yun SW, Lee JJ
- KMID: 2281063
- Korean J Pediatr.
- 2009 Oct;52(10):1171-1174.
- doi: 10.3345/kjp.2009.52.10.1171
Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include... -
- CITED
-
- Close
- SHARE
-
- Close
- Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
-
Xie CH, Yang JB, Gong FQ, Zhao ZY
- KMID: 724268
- Yonsei Med J.
- 2008 Jun;49(3):500-502.
- doi: 10.3349/ymj.2008.49.3.500
We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as... -
- CITED
-
- Close
- SHARE
-
- Close
- Edwards Syndrome: an autopsy case
-
Jin SY, Jung WH, Hong CH
- KMID: 2274863
- Korean J Pathol.
- 1986 Sep;20(3):343-348.
Edwards syndrome is first introduced by Edwards and characterized by facial anomalies, multiple cardiovascular, gastrointestinal, urogenital, and skeletal malformations. It results from triplication of part or all of chromosome 18... -
- CITED
-
- Close
- SHARE
-
- Close
- The Expression of Bcl-2 Protein in Gastric Adenoma
-
Chung IS, Kim SW, Han SW, Lee DS, Lee KM, Ahn BM, Lee EH, Yang YS, Park DH
- KMID: 2240326
- Korean J Gastroenterol.
- 2000 May;35(5):562-567.
BACKGROUND/AIMS: The Bcl-2 protooncogene, located on chromosome 18, codes for a 26 kd protein involved in inhibiting programed cell death (apoptosis). Recent studies have revealed a close relationship between aberrant expression of Bcl-2... -
- CITED
-
- Close
- SHARE
-
- Close
- Rapid detection of aneuploidy in uncultured fetal cord blood cells by FISH ( Fluorescence In Situ Hybridization )
-
Choi YM, Chang EJ, Jun JK, Hwang DY, Cheong KS, Kim KC, Min EG, Choe J, Moon SY
- KMID: 2269970
- Korean J Obstet Gynecol.
- 2000 Mar;43(3):386-390.
OBJECTIVE: To determine the fetal aneuploidy in fetal blood cells from cordocentesis. METHODS: We analyzed their karyotype and performed fluorescence in situ hybridization(FISH) for chromosome 18, 21, X, and Y in... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of 18q-Deletion Syndrome with Hydronephrosis and Anhydrosis
-
Kim MH, Yoo KH, Hong YS, Lee JW, Kim SK
- KMID: 2335408
- J Korean Pediatr Soc.
- 1999 May;42(5):711-715.
The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region,... -
- CITED
-
- Close
- SHARE
-
- Close
