- Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion
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Oh DC, Min JY, Lee MH, Kim YM, Park SY, Won HS, Kim IK, Lee YH, Yoo SJ, Ryu HM
- KMID: 2157607
- J Korean Med Sci.
- 2002 Feb;17(1):125-128.
- doi: 10.3346/jkms.2002.17.1.125
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH)... -
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- Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation
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Park IY, Shin JC, Kwon JY, Koo BK, Kim M, Lim J, Kim Y, Han K
- KMID: 1096932
- Korean J Lab Med.
- 2009 Aug;29(4):366-370.
- doi: 10.3343/kjlm.2009.29.4.366
Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic... -
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- Threshold of Nuchal Translucency for the Detection of Chromosomal Aberration: Comparison of Different Cut-offs
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Kim MH, Park SH, Cho HJ, Choi JS, Kim JO, Ahn HK, Shin JS, Han JY, Kim MY, Yang JH
- KMID: 2157774
- J Korean Med Sci.
- 2006 Feb;21(1):11-14.
- doi: 10.3346/jkms.2006.21.1.11
This study evaluated the sensitivities and false positive rates of the screening test using ultrasonographic measurement of thickness of nuchal translucency (NT) with different cut-offs for chromosomal aberration in a... -
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