- 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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- Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses
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Han SH, An JW, Jeong GY, Yoon HR, Lee A, Yang YH, Lee KP, Lee KR
- KMID: 1781570
- Korean J Lab Med.
- 2008 Oct;28(5):378-385.
- doi: 10.3343/kjlm.2008.28.5.378
BACKGROUND: Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has... -
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