Oxford Desk Reference Clinical Genetics

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Oxford Desk Reference Clinical Genetics

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Opis: Oxford Desk Reference Clinical Genetics - Helen Firth, Jane Hurst

The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated. ...a comprehensive and highly focussed guide to clinical genetics that should certainly rank as an indeispensable handbook for consultants in clinical genetics, genetic counsellors and paediatricians. However, it should also be extremely useful for PhD students in nearly all disciplines within medical and/or human genetics. Its major strength is the well-conceived and clearly laid out format which enables the reader to obtain a rapid yet quite substantial overview of a plethora of difficult topics... Human Genetics The authors of [this book] deserve to be congratulated for achieving the impossible...Overall this book is a winner and is a must for every clinical genetics department. This is arguably the most important book ever published for trainees in genetics...[but] can be considered as an extremely useful reference source to any genetics physician...this book is a 'peripheral brain' and 'lifesaver' for geneticists in many situations! Ulster Medical Journal Vol 75, no 3 If there was a Booker Prize for new texts on clinical genetics, then the winner this year would be a foregone conclusion. No one else could possibly come up with and entry as good as this. ... the definitive hands-on guide to clinical genetics. ... The breadth and depth of information provided is remarkable. ... As a practical guide to the specialty of clinical genetics this book has no match, and overall it represents an awesome achievement. How did the authors manage to acquire and collate all this knowledge? Where did they find all this information? ... If your department can only afford one book this year, make it this one. Better still, buy your own copy and keep it hidden because it is going to be much in demand. BMJ This is an amazing compilation of genetic knowledge. It provides a fantastic tool for clinical geneticists who require a fast review of specific genetic subjects while performing clinical consultations. ... Condensation of the amount of information included in this wonderful book could not be done any better. ... This is a most-have tool for all clinical geneticists who require quick and specific reviews in clinical practice. ... Dr Firth and Hurst have achieved a tremendous goal. They have been able to summarize a tremendous amount of information in clinical genetics and convert it to an excellent tool for the practice of the specialty. It could not be done any better. The magnificent work done suggests that as the field of clinical genetics expands, further editions will be needed. This is a must have book, and a second edition would be expected. Doody's JournalPART 1: INTRODUCTION ; Adoption ; Approach to the consultation with a child with dysmorphism, congential malformation, or developmental delay ; Autosomal dominant (AD) inheritance ; Autosomal recessive (AR) inheritance ; Communication skills ; Confidentiality ; Confirmation of diagnosis ; Consent for genetic testing ; The genetic code and mutations ; Genomic imprinting ; Mitochondrial inheritance ; Multifactorial inheritance ; Reproductive options ; Testing for genetic status ; Useful resources ; X-linked dominant (XLD) inheritance ; X-linked recessive (XLR) inheritance ; PART 2: CLINICAL APPROACH ; Ambiguous genitalia (including sex reversal) ; Anal anomalies (atresia, stenosis and anterior placement) ; Anterior segment eye malformations ; Arthrogryposis ; Ataxic adult ; Ataxic child ; Brachydactyly ; Broad thumbs ; Cardiomyopathy in children under 10 yrs ; Cataract ; Cerebellar anomalies ; Cerebral palsy ; Chondrodysplasia punctata ; Cleft lip and palate ; Coarse facial features ; Coloboma ; Congenital heart disease ; Corneal clouding ; Deafness ; Developmental delay in the child with consanguineous parents ; Developmental regression ; Duane retraction syndrome ; Dysmorphic child ; Dystonia ; Ear anomalies ; Facial asymmetry ; Failure to thrive ; Floppy infant ; Fractures ; Generalised disorders of pigmentation (including albinism) ; Hemihyperplasia and limb asymmetry ; Holoprosencephaly ; Hydrocephalus ; Hypermobile joints ; Hypoglycaemia in infancy ; Hypospadias ; Increased bone density ; Large fontanelle ; Laterality disorders including heterotaxy and isomerism ; Leukodystrophy ; Limb reduction defect ; Lissencephaly and neuronal migration disorders ; Lumps and bumps ; Macrocephaly ; Mental retardation with apparent X-linked inheritance ; Mental retardation ; Microcephly ; Micrognathia and Robin sequence ; Microphthalmia and anophthalmia ; Minor congenital anomalies ; Nasal anomalies ; Neonatal encephalopathy and intractable seizures ; Nystagmus ; Obesity with and without developmental delay ; Ocular hypertelorism ; Oedema - generalised or puffy extremities ; Oesophageal and intestinal atresia (including tracheo-oesophageal fistula) ; Optic nerve hypoplasia ; Overgrowth ; Patchy hypomelanotic skin lesions ; Patchy pigmented skin lesions (including cafe au lait spots) ; Plagiocephaly and abnormalities of skull shape ; Postaxial polydactyly ; Preaxial polydactyly ; Prolonged neonatal jaundice and jaundice in infants below 6 months ; Ptosis blepharophimosis and other eyelid anomalies ; Radial ray and thumb hypoplasia ; Retinal dysplasia ; Retinal receptor dystrophies ; Scalp defects ; Seizures with developmental delay ; Short stature ; Skeletal dysplasia ; Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia and arachnoid cysts) ; Suspected non-accidental injury ; Syndactyly ; Unusual hair, teeth and nails ; PART 3: COMMON CONSULTATIONS ; Achondroplasia ; Autosomal dominant polycystic kidney disease (ADPKD) ; Adrenoleukodystrophy (X-linked) ; Alpha 1- antitrypsin deficiency ; Alport syndrome ; Androgen insensitivity syndrome (AIS) ; Angelman syndrome ; Autism and autistic spectrum disorders ; Beckwith-Wiedemann syndrome ; Congenital adrenal hyperplasia ; Consanguinity ; Craniosynostosis ; Cystic fibrosis ; Dementia ; Diabetes ; Dilated cardiomyopathy (DCM) ; DNA repair defects ; Duchenne and Becker muscular dystrophy (DMD and BMD) ; Ehlers-Danlos syndrome (EDS) ; Epilepsy in infants and children ; Epilepsy ; Facioscapulohumeral muscular dystrophy (FSHD) ; Fragile X syndrome ; Glaucoma ; Haemochromatosis ; Haemoglobinopathies ; Haemophilia and other inherited coagulation disorders ; Hereditary Haemorrhagic Telangiectasia (HHT) ; Hereditary motor sensory neuropathy (HMSN) ; Hereditary Spastic Paraplegia (HSP) ; Hirschprung disease ; Huntington disease (HD) ; Hyperlipidaemia ; Hypertrophic cardiomyopathy (HCM) ; Immunodeficiency ; Incest ; Leigh's encephalopathy ; Limb girdle muscular dystrophies ; Long QT and Brugada syndromes ; Marfan syndrome ; Mitochondrial diseases ; Myotonic dystrophy ; Neural tube defects ; Neurofibromatosis type 1 (NF1) ; Noonan syndrome ; Parkinson disease ; Retinitis pigmentosa ; Rett syndrome ; Sensitivity to anaesthetic agents ; Spinal muscular atrophy (SMA) ; Stickler syndrome ; Thrombophilia ; Tuberous sclerosis (TS) ; PART 4: CANCER ; BRCA1 and BRCA2 ; Breast cancer ; Cancer surveillance methods ; Colorectal cancer ; Confirmation of diagnosis ; Cowden syndrome (PTEN) ; Diet, smoking, exercise, obesity ; Familal adenomatous polyposis (FAP) ; Gastric cancer ; Gorlin syndrome ; Hereditary nonpolposis colorectal cancer (HNPCC) ; Juvenil polyposis (JPS) ; Li-Fraumini syndrome ; Multiple endocrine neoplasia (MEN) ; Neurofibromatosis type 2 (NF2) ; Ovarian cancer ; Peutz-Jeghers syndrome (PJS) ; Phaeochromocytoma ; Retinoblastoma ; Von Hippel-Lindau syndrome (VHL) ; Wilms tumour ; PART 5: CHROMOSOMES ; 22q11 deletion syndrome ; 47,XXX ; 47,XXY ; 47,XYY ; Autosomal reciprocal translocations - background ; Autosomal reciprocal translocations - familial ; Autosomal reciprocal translocations - postnatal ; Autosomal reciprocal translocations - prenatal ; Cell division - Mitosis, meiosis and non-disjuction ; Chromosomal mosaicism - postnatal ; Chromosomal mosaicism - prenatal ; Deletions and duplications ; Down syndrome (Trisomy 21) ; Edwards syndrome (Trisomy 18) ; Inversions ; Marker chromosomes (ESACs) - postnatal ; Marker chromosomes (ESACs) - prentatal ; Mosaic trisomy 8 ; Mosaic trisomy 16 ; Patau syndrome (Trisomy 13) ; Prenatal diagnosis of sex chromosome aneuploidy ; Ring chromosomes ; Robertsonian translocations ; Sex chromosome mosaicism ; Submicroscopic chromosomal rearrangements and the chromosomal phenotype ; Triploidy ; Turner syndrome ; X-autosome translocation ; PART 6: PREGNANCY AND FERTILITY ; Anterior abdominal wall defects ; Assisted reproductive technologies - PGD, ICSI and IVF ; Bowed limbs ; Clubfoot (Talipes) ; Congenital cystic lung lesions, Currarino syndrome and Sacrococcygeal teratomas ; Congenital diaphragmatic hernia ; Cytomegalovirus (CMV) ; Dandy-Walker malformation ; Drugs in pregnancy ; Female infertility ; Fetal alcohol syndrome ; Fetal anticonvulsant syndrome ; Fetomaternal alloimmunisation (Rhesus D and thrombocytopaenia) ; Hyperechogenic bowel ; Hypoplastic left heart ; Imaging in prenatal diagnosis ; Invasive techniques and genetic tests in prenatal diagnosis ; Low maternal serum oestriol ; Male infertility ; Maternal age ; Maternal diabetes mellitus and diabetic embryopathy ; Maternal PKU ; Miscarriage and recurrent miscarriage ; Oedema - nuchal translucency, cystic hygroma and hydrops ; Premature ovarian failure ; Radiation exposure and landfill sites ; Renal tract anomalies ; Rubella ; Short limbs ; Toxoplasmosis ; Twins and twinning ; Varicella ; Ventriculomegaly ; APPENDIX ; Carrier frequency and carrier testing for autosomal recessive disorders ; Centile charts for height, weight and OFC ; Conversion charts for lb to kg and ft and inches to cm ; Denver developmental screening test ; Distribution of muscle weakness in different types of muscular dystrophy ; Haploid autosomal lengths of human chromosomes ; Investigation of lethal metabolic disorder or skeletal dysplasia ; Normal range of aortic root dimensions ; Paternity testing ; Patterns of cancer ; Banding pattern of human chromosomes ; Bayes Theorem ; Behaviour pattern profile ; Beighton score for joint hypermobility ; CK levels for carrier testing in DMD ; Diagrams of FISH and microarray ; Dysmorphology examination checklist ; Family tree sheet and symbols ; Inheritance patterns ; ISCN nomenclature ; Karyotypes ; Line drawings of a) amniocentesis, and b) CVS ; Picture of muscle cell ; Radiological investigations including MRI ; Sample consent form for consent from relatives regarding diagnosis or test results ; Sample consent form for genetic testing ; Skeletal dysplasia charts ; Staging of puberty


Szczegóły: Oxford Desk Reference Clinical Genetics - Helen Firth, Jane Hurst

Tytuł: Oxford Desk Reference Clinical Genetics
Autor: Helen Firth, Jane Hurst
Producent: Oxford University Press
ISBN: 9780192628961
Rok produkcji: 2005
Ilość stron: 752
Oprawa: Twarda
Waga: 1.57 kg


Recenzje: Oxford Desk Reference Clinical Genetics - Helen Firth, Jane Hurst

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