Oxford Desk Reference - Clinical Genetics

• Facilitates planning of investigations for a specific clinical problem and ensures that appropriate investigations have been requested
• Includes 77 clinical approaches and 53 common consultation, in an easy A-Z format
• Each section has been reviewed by world experts in the field
• Topics selected to include those most frequently referred to a geneticist for out-patient or ward consult
• The first in a brand new series of easy-to-use guides

Readership: Consultants and trainees in clinical genetics, genetic counsellors and paediatricians, especially those working in paediatric neurology, neonatology or child development.

Helen V. Firth, Consultant Clinical Geneticist, Addenbrookes Hospital, Cambridge, UK, and Jane A. Hurst, Consultant in Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, UK

"...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 Journal

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