- Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
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Choi JH, Choi YJ, Kim SY
- KMID: 1387403
- Korean J Ophthalmol.
- 2012 Aug;26(4):316-318.
- doi: 10.3341/kjo.2012.26.4.316
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has... -
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- An unusual combination of trisomy 21 and partial trisomy 5q
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Kim CJ, Chi JG, Lee KH, Lee CK, Yoo MS, Paik YK
- KMID: 1421942
- J Korean Med Sci.
- 1992 Dec;7(4):373-376.
- doi: 10.3346/jkms.1992.7.4.373
The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of... -
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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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- Aplastic Anemia with Trisomy 8 and Trisomy 9 in Intestinal Behcet's Disease
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Chung JW, Cheon JH, Lee KJ, Kim JS, Jang SJ, Yang WI, Kim TI, Kim WH
- KMID: 1792777
- Korean J Gastroenterol.
- 2010 Apr;55(4):256-260.
- doi: 10.4166/kjg.2010.55.4.256
Behcet's disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcet's disease. There... -
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- Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
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Kim YH, Kim HS, Ryoo NH, Ha JS
- KMID: 1781301
- Ann Lab Med.
- 2013 Jan;33(1):69-74.
- doi: 10.3343/alm.2013.33.1.69
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from... -
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- A Case of Partial Trisomy 9pter --> q13 due to Paternal Balanced Translocation t (9;21) (q13;q21)
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Woo KS, Kim KE, Kwon EY, Kim JP, Han JY
- KMID: 854855
- Korean J Lab Med.
- 2008 Apr;28(2):155-159.
- doi: 10.3343/kjlm.2008.28.2.155
Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deepset eyes, and down-slanting palpebral... -
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- Two Cases of Trisomy 19 as a Sole Chromosomal Abnormality in Myeloid Disorders
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Jung SI, Cho HS, Lee CH, Kim KD, Ha JO, Kim MK, Lee KH, Hyun MS
- KMID: 854862
- Korean J Lab Med.
- 2008 Jun;28(3):174-178.
- doi: 10.3343/kjlm.2008.28.3.174
Trisomy 19 is frequently encountered in cases of chronic myeloid leukemia (CML) as a secondary abnormality: however, trisomy 19 rarely occurs as a sole chromosomal abnormality and, to date, it... -
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- Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization
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Shin YB, Nam SO, Seo EJ, Kim HH, Chang CL, Lee EY, Son HC, Hwang SH
- KMID: 1107538
- J Korean Med Sci.
- 2008 Dec;23(6):1097-1101.
- doi: 10.3346/jkms.2008.23.6.1097
Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby... -
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- Analysis of Acute Myeloid Leukemia in Korean Patients with Sole Trisomy 6
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Yu S, Kwon MJ, Lee ST, Woo HY, Park H, Kim SH
- KMID: 1791959
- Ann Lab Med.
- 2014 Sep;34(5):402-404.
- doi: 10.3343/alm.2014.34.5.402
No abstract available. -
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- A Case of Partial Trisomy 15q25.3-qter
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Kim JH, Lee WM, Ryoo NH, Ha JS, Jeon DS, Kim JR, Kim JS, Lee SY
- KMID: 1781596
- Korean J Lab Med.
- 2009 Feb;29(1):66-70.
- doi: 10.3343/kjlm.2009.29.1.66
A 15q25-qter partial trisomy characterized by pre or postnatal overgrowth, tall stature, macrocephaly and craniosynostosis has rarely been reported. The cause of overgrowth has been thought to be the triplication... -
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- A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
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Kang JE, Park MY, Cheon CK, Lee HD, Hwang SH, Yi J
- KMID: 1781445
- Ann Lab Med.
- 2012 Jan;32(1):91-94.
- doi: 10.3343/alm.2012.32.1.91
Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital... -
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- Clinical Prognostic Factors in 86 Chinese Patients with Primary Myelodysplastic Syndromes and Trisomy 8: A Single Institution Experience
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Yue QF, Chen L, She XM, Hu B, Hu Y, Zou P, Liu XY
- KMID: 2374040
- Yonsei Med J.
- 2016 Mar;57(2):358-364.
- doi: 10.3349/ymj.2016.57.2.358
PURPOSE: The objective was to determine the characteristics and prognostic factors of 86 Chinese patients with trisomy 8 aberrations and compare the prognostic value of International Prognostic System (IPSS) and... -
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