- 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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- Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome
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Kim KJ, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara
- KMID: 1081056
- J Korean Med Sci.
- 1997 Aug;12(4):332-339.
- doi: 10.3346/jkms.1997.12.4.332
Lesch-Nyhan syndrome is caused by the complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT). By the analysis of genomic DNA and mRNA using the polymerase chain reaction (PCR) technique coupled... -
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