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Principles of derivation of risk estimates
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Aa X Aa abnormal affected child affected individuals affected males affected parent age of onset alleles anaemia aneuploidy anomalies appear associated autosomal dominant autosomal dominant gene autosomal dominant trait autosomal recessive trait birth born centromere Chapter childhood chromatids cleft palate clinical condition congenital consanguineous daughter deafness defect degree relatives described determined disease disorders dominant gene failure of penetrance families gametes genetic genotypes germ cells heterozygote heterozygous heterozygous carrier homozygotes homozygous identified II3 is heterozygous III2 IIIi invariably penetrant loci malformations mating mongolism monofactorial mosaic mother multifactorial mutation occur pair patients phenotypes population posterior probability pregnancy presumptively heterozygous prior probability proportion recessive gene recessive gene traits recessive inheritance recognised relatives of index reported risk estimates risks to offspring risks to sibs risks to subsequent severe sex chromosomes sibs of sporadic sibship single gene situation subsequent sibs syndrome translocate trisomy unaffected sons usually X chromosome X-linked recessive zygotes