Oxford Desk Reference: Clinical Genetics: (Oxford Desk Reference)

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.

Table of Contents:
Part 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 café 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

Review :
`It is very refreshing to review a book written for clinicians by clinicians, which is in a format that reflects situations actually encountered in practice. Information provided by the referring doctor to a clinical geneticist or other specialist before a clinic or ward consultation is usually limited. This new text takes common referral indications and, in a standardized format that manages to be brief and clear without skimping on detail, reminds the clinician of diagnostic possibilities and strategies for investigation and management. This will allow the best possible use to be made of an individual consultation by both the patient and the doctor.' Dian Donnai, Professor of Medical Genetics, University of Manchester, Consultant Clinical Geneticist, Regional Genetics Service, St Mary's Hospital, Manchester, UK `I have been impressed with the thoughtfulness of the topics. This should be a great help to many people who are part of the clinical genetics team....There are up-to-date summaries for the staff member who needs a refresher, as well as the glossary and the headings on fundamental topics, like AD inheritance, for those just starting out. ' Lewis B. Holmes Professor of Pediatrics, Harvard Medical School and Chief, Genetics and Teratology Unit, Massachusetts General Hospital for Children, Boston, Massachusetts, USA `This is going to be an extremely useful reference source. The authors have done an outstanding job of summarizing, in one or two pages, pertinent recommendations regarding diagnoses and management of specific disorders as well as practical approaches to a variety of problems that commonly present in real life. ' Marilyn Jones, Adjunct Professor of Pediatrics, University of California, San Diego and Director, Dysmorphology and Genetics, Children's Hospital San Diego, USA