Annotation Pediatricians, medical geneticists, genetics counselors. Genetic testing now plays an important role in the investigation of almost every child who presents with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. In this book, coverage has been restricted to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.
9781901346633 1901346633
= Common terms and phrases abnormalities activity affected Age of onset allele amino acids appears approximately associated autosomal dominant autosomal recessive basis birth carrier cause cell childhood Chromosomal location Gene classical Clinical features collagen common complex condition congenital consist contains counseling defect deficiency deletions disease disorders early encodes enzyme exons exons and encodes expression factor families female Figure findings frame-shift gene Gene Mutational spectrum Genetic diagnosis growth haploinsufficiency hearing loss HMSN identified incidence increased individuals Inheritance Inheritance Chromosomal location insertions involved isolated known levels loss loss of function males mild missense mutations Molecular pathogenesis muscle mutation analysis myosin nonsense normal occur offered parents paternal patients phenotype point mutations population Prenatal diagnosis present probably progressive protein rare receptor recurrence reduced region repeat result risk seen sequence severe short specific splice-site mutations syndrome Table testing transcription tumor Unknown usually variable