[Holt-Oram syndrome].
Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).
Elek
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Humángenetikai és Teratológiai Osztály, WHO Orökletes Artalmak Társadalmi Megelözése, Együttmüködési Központ, Országos Közegészségügyi Intézet, Budapest.
Vitéz
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Czeizel
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E
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D001132:Arm / Q000002:abnormalities*; D004812:Epidemiologic Methods; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D006814:Hungary; D015995:Prevalence; D012042:Registries; D013577:Syndrome