10-7
Chapter One
The Relationship Between
Genotype and Phenotype:
Some Basic Concepts
Philip Stanier and Gudrun Moore
Introduction
Without even considering early fetal loss, it is reported that as many as 3.5% of all
live-born babies have some kind of major abnormality, referred to as a birth defect.
Actual incidences may vary according to locality, culture, ethnicity and the efficiency
of recognition and reporting. If minor abnormalities such as cleft lip are included,
then the incidence is nearer to 5%. In the Western world, birth defects constitute the
greatest single cause of infant mortality and have a major impact on national health
care budgets (/).
In this introductory chapter some basic precepts and concepts are presented and
explained. For a comprehensive introduction to embryonic development per se, the
reader is referred to any one of several excellent publications that already exist (e.g.
Alberts et al., 2002; Gilbert, 2003; Wolpert, 2002). What this chapter attempts to
provide is the information that might be necessary for a clinician or advanced student
... read full excerpt from Embryos, Genes and Birth Defects ebook
