By Michael Baraitser, Robin M. Winter
The 1st 5 chapters of this e-book hide the fundamental ideas of clinical genetics and contain many beneficial diagrams. the remainder of the publication is a photographic encyclopaedia of all of the recognized genetic issues, grouped via structures.
Read or Download A Colour Atlas of Clinical Genetics PDF
Similar genetics books
Polyploidy – whole-genome duplication (WGD) – is a basic motive force of biodiversity with major effects for genome constitution, association, and evolution. as soon as thought of a speciation technique universal basically in vegetation, polyploidy is now well-known to have performed a massive function within the constitution, gene content material, and evolution of so much eukaryotic genomes.
This quantity comprises cutting-edge equipment tackling all features of small non-coding RNAs biology. Small Non-Coding RNAs: tools and Protocols courses readers via personalized devoted protocols and applied sciences that would be of worthy aid to all these keen to give a contribution decoding the varied capabilities of small non-coding RNAs.
"This name will offer cytogenetic, FISH and microarray laboratory usual working systems (SOP's) and knowledge on tips to successfully write SOP's; validation plans and summaries; chemical, safeguard, quality controls and caliber coverage courses; and plans for potent use of reagents, tools and equipment"--Provided by means of writer.
- Molecular Genetics of Host-Specific Toxins in Plant Disease: Proceedings of the 3rd Tottori International Symposium on Host-Specific Toxins, Daisen, Tottori, Japan, August 24–29, 1997
- Williams Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References
- Systematic: How Systems Biology Is Transforming Modern Medicine
- Genetic Engineering
- The Genetic Structure of Populations
Additional info for A Colour Atlas of Clinical Genetics
48 170 172 174 L 175 176 177 175-177 Apert syndrome. Note: Brachycephaly, acrocephaly, proptosis, beaked nose, mid-facial hypoplasia, antemongoloid slant to eyes, syndactyly of all fingers giving 'base-ball glove' appearance, big toes and thumbs are often free. Other features: Craniosynostosis, mental retardation, narrow or cleft palate and broad thumbs in valgus position. Inheritance: Autosomal dominant, most cases are fresh mutations. 178 179 178 and 179 Pfeiffer syndrome. Note: Acrocephaly, tall, prominent forehead, hypoplastic supra-orbital ridge, antemongoloid slant to eyes with hypertelorism, flat nasal bridge, broad great toes in valgus and syndactyly of toes 2-3 (in grandfather).
138 139 138and 139 Synpolydactyly. Note: Duplication of fourth fingers with partial syndactyly. Similar features in the father, in whom the most lateral finger has been removed on both hands. Other features: Synpolydactyly refers to the situation where syndactyly can occur in some individuals of a family without polydactyly, and not vice versa. Polysyndactyly refers to the opposite situation where polydactyly can occur without syndactyly. Inheritance: Autosomal dominant. 140 Post-axial polydactyly.
Inheritance: Autosomal recessive. 58 218 220 221 222 223 225 224 226 222-226 Aarskog syndrome. Note: Hypertelorism, anteverted nostrils, small nose, broad philtrum, maxillary hypoplasia, 'shawl' scrotum, lax joints, bulbous tips to digits and clinodactyly. Other features: Mild ptosis, short stature. Inheritance: X-linked recessive, carrier females sometimes show mild manifestations and especially short stature. 59 227 227 Seckel ('Bird-headed dwarf'). Note: Microcephaly, small face with prominent nose.
A Colour Atlas of Clinical Genetics by Michael Baraitser, Robin M. Winter