Genetics for Pediatricians
- illustrated
- London Chicago Remedica, c2005
- 308 p. : ill. ; 22 cm. Includes index.
- Genetics Series Remedica genetics for-- series 14724618 .
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.
1901346633 9781901346633
= abnormalities activity affected individuals affected males Age of onset allele amino acids anemia aniridia Apert syndrome approximately autosomal dominant autosomal dominant inheritance autosomal recessive birth cause cell childhood Chromosomal location Gene collagen congenital defect deficiency deletions diagnosis and counseling disease disorders enzyme Epidemiology Epidemiology Inheritance Chromosomal exons exons and encodes expression families female Figure frame-shift mutations function effect Gene Mutational spectrum genetic testing genome haploinsufficiency hearing loss HMSN homozygous hormone identified incidence Inheritance Chromosomal location intron involved kinase linkage analysis lissencephaly location Gene Mutational loss of function membrane mental retardation microdeletion mild missense mutations Molecular pathogenesis Genetic mRNA muscle Mutational spectrum Molecular neuronal nonsense mutations normal onset Epidemiology Inheritance paternal pathogenesis Genetic diagnosis patients phenotype point mutations Prenatal diagnosis protein protein product receptor recurrence risk renal retinal severe spectrum Molecular pathogenesis splice-site mutations Stickler syndrome Syndrome also known transmembrane tumor Unknown variable X-linked recessive
--Genetic disorders in children-- Medical / Genetics-- Medical › Genetics