By Harold Chen

Dr. Chen stocks his virtually forty years of scientific genetics perform in a finished pictorial atlas of virtually 250 genetic problems, malformations, and malformation syndromes. the writer presents a close define for every affliction, describing its genetics, easy defects, medical positive aspects, diagnostic assessments, and counseling matters, together with recurrence hazard, prenatal analysis, and administration. various colour photos of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the scientific positive factors of sufferers at assorted a long time, sufferers with various levels of severity, and the optimum diagnostic thoughts. The issues stated are supplemented by means of case histories and diagnostic affirmation by means of cytogenetics, biochemical, and molecular suggestions, whilst to be had. The Atlas of Genetic analysis and Counseling might help all physicians to appreciate and realize genetic illnesses and malformation syndromes and higher evaluation, information, and deal with affected sufferers. during this re-creation, forty seven extra genetic issues are extra, in addition to large updates made to the former issues. New illustrations, as prior variation, might be supplemented by means of case and relatives historical past, scientific gains, and laboratory information, specifically molecular affirmation.

Show description

Read or Download Atlas of Genetic Diagnosis and Counseling PDF

Best genetics books

Trygve Tollefsbol's Epigenetics in Human Disease PDF

Epigenetics is without doubt one of the quickest transforming into fields of sciences, illuminating stories of human ailments through taking a look past genetic makeup and acknowledging that out of doors components play a job in gene expression. The target of this quantity is to spotlight these illnesses or stipulations for which now we have complex wisdom of epigenetic elements comparable to melanoma, autoimmune issues and getting older in addition to those who are yielding intriguing breakthroughs in epigenetics resembling diabetes, neurobiological problems and heart problems.

Download e-book for kindle: Darwinian Detectives: Revealing the Natural History of Genes by Norman A. Johnson

Norm Johnson has performed an outstanding activity with a posh subject, and this booklet is one who can be learn by way of each scholar of evolution. With a crisp, attractive writing kind, Johnson does a superb task illuminating evolutionary themes starting from Kimura's impartial thought of molecular evolution to the evolutionary histories of either canines and their proprietors.

New PDF release: Genetically Engineered Food: Methods and Detection

Carrying on with the very winning first version, this ebook studies the latest alterations to the felony scenario in Europe referring to genetically engineered meals and labeling. because of the super swift advancements in eco-friendly biotechnology, the entire chapters were considerably revised and up-to-date. Divided into 3 unique components, the textual content starts through overlaying purposes and views, together with transgenic amendment of construction characteristics in livestock, fermented nutrients construction and the construction of meals ingredients utilizing filamentous fungi.

Edward L. Schneider (auth.), Edward L. Schneider (eds.)'s The Genetics of Aging PDF

The Genetics of getting older is split into numerous sections in an try to offer a logical development from the extent of the genome to the area of human genetics. the connection among the genetic fabric and getting older might be completely explored within the preliminary chapters. those chapters talk about intensive a number of the theories which have been proposed for the mechanisms of getting older on the molecular point and current information which both help or contradict those hypotheses.

Additional resources for Atlas of Genetic Diagnosis and Counseling

Sample text

Bolton, A. , et al. (2010). Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. New England Journal of Medicine, 362, 206–216. Soothill, P. , & Rees, H. (1993). Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks’ gestation. Prenatal Diagnosis, 13, 523–528. Spranger, J. (1992). International classification of osteochondrodysplasias. European Journal of Pediatrics, 151, 407–415. , & Zabel, B. (1994). The type II collagenopathies: A spectrum of chondrodysplasias.

Brons, J. , Dijkstra, P. , et al. (1988a). Achondrogenesis-hypochondrogenesis: The spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. Pediatric Pathology, 8, 571–597. Van der Harten, H. , Brons, J. , Dijkstra, P. , et al. (1988b). Achondrogenesis-hypochondrogenesis: The spectrum of chondrogenesis imperfecta. A radiological, 16 ultrasonographic, and histopathologic study of 23 cases. Pediatric Pathology, 8, 571–597. Yang, S. , & Bernstein, J.

A. (1995). Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. Radiology, 196, 541–545. Pauli, R. M. (2001). Achondroplasia. In S. B. Cassidy & J. E. ), Management of genetic syndromes. New York: Wiley-Liss. , Mattei, J. , et al. (1988). Achondroplasia in sibs of normal parents. Journal of Medical Genetics, 25, 857–859. , Hirsch, J. , et al. (1980). Hydrocephalus and achondroplasia. A study of 25 observations. Child’s Brain, 7, 205–219.

Download PDF sample

Rated 4.01 of 5 – based on 26 votes