- 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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- 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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- Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis
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Park Y, Gong G, Choe G, Yu E, Kim KS, Lee I
- KMID: 1422020
- J Korean Med Sci.
- 1993 Dec;8(6):471-475.
- doi: 10.3346/jkms.1993.8.6.471
Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated... -
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- Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
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Ko JM, Kim JB, Pai KS, Yun JN, Park SJ
- KMID: 1792906
- J Korean Med Sci.
- 2010 Dec;25(12):1798-1801.
- doi: 10.3346/jkms.2010.25.12.1798
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome.... -
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- The effect of genetic counseling on performance of prenatal cytogenetic diagnosis
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Kim SK, Kim IK, Kim CK, Yang YH, Park TK, Kim KY
- KMID: 1118125
- Yonsei Med J.
- 1989 Mar;30(1):16-22.
- doi: 10.3349/ymj.1989.30.1.16
Currently the number of pregnant women who have indications for, but do not receive, prenatal cytogenetic diagnosis is increasing. The purpose of this study was to review the prenatal cytogenetic... -
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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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- 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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- Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
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Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
- KMID: 1096661
- Korean J Lab Med.
- 2011 Jan;31(1):49-53.
- doi: 10.3343/kjlm.2011.31.1.49
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by... -
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