- 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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- Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia
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Suh B, Song J, Kim J, Park TS, Choi JR
- KMID: 1781618
- Korean J Lab Med.
- 2010 Jun;30(3):218-223.
- doi: 10.3343/kjlm.2010.30.3.218
BACKGROUND: Although the pericentric inversion of chromosome 9, inv(9)(p11q13), is generally considered a normal variation, it is also associated with solid tumors and several hematologic malignancies such as biphenotypic acute... -
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- Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion
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Mun SJ, Cho EH, Chey MJ, Shim GH, Shin BM, Lee RK, Ko JK, Yoo SJ
- KMID: 1096825
- Korean J Lab Med.
- 2010 Feb;30(1):89-92.
- doi: 10.3343/kjlm.2010.30.1.89
Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here,... -
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- De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
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Jeong SY, Kim BY, Yu JE
- KMID: 1071432
- Yonsei Med J.
- 2010 Sep;51(5):775-780.
- doi: 10.3349/ymj.2010.51.5.775
PURPOSE: The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal... -
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- Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
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Jeong H, Huh HJ, Youn J, Kim JS, Cho JW, Ki CS
- KMID: 1781368
- Ann Lab Med.
- 2014 Jan;34(1):80-84.
- doi: 10.3343/alm.2014.34.1.80
No abstract available. -
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- The First Korean Case of Childhood Acute Myeloid Leukemia with Inv(11)(p15q22)/NUP98-DDX10 Rearrangement: A Rare but Recurrent Genetic Abnormality
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Choi R, Jang MA, Yoo KH, Lee ST, Kim HJ, Kim SH
- KMID: 2129577
- Ann Lab Med.
- 2014 Nov;34(6):478-480.
- doi: 10.3343/alm.2014.34.6.478
No abstract available. -
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- Rapid Detection of Prognostically Significant Fusion Transcripts in Acute Leukemia Using Simplified Multiplex Reverse Transcription Polymerase Chain Reaction
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Cho YU, Chi HS, Park CJ, Jang S, Seo EJ
- KMID: 1778820
- J Korean Med Sci.
- 2012 Oct;27(10):1155-1161.
- doi: 10.3346/jkms.2012.27.10.1155
Multiplex reverse transcription polymerase chain reaction (mRT-PCR) has recently emerged as an alternative to cytogenetics. We designed and used simplified mRT-PCR system as a molecular screen for acute leukemia. Fifteen... -
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