doi: 10.1038/sj.ejhg.5200150.
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
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- PMID: 9781012
- DOI: 10.1038/sj.ejhg.5200150
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Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
Eur J Hum Genet.
1998 Jan.
Abstract
Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24. We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardio-facio-cutaneous (CFC) syndrome in others. Clinical data and linkage data in this family indicate that NS and CFC syndrome result from a variable expression of the same genetic defect. We report a maximum lod score of 4.43 at zero recombination for marker D12S84 in 12q24. A crossover in this pedigree narrows the candidate gene region for NS to a 5 cM interval between markers D12S84 and D12S1341.
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