Short description
This volume provides a practical, easy-to-use guide to clinical consultation in genetics, covering the process of diagnosis, investigation, management, and counselling for patients. All genetic conditions are covered as well as referral categories for a clinical genetic opinion.
Long description
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.
Review
This book is well suited to its intended purpose of providing a practical text for trainee radiotherapy physicists and, in addition, it is a useful reference text for other physicists ... it gives a valuable insight into the quality assurance and practical considerations required to establish and maintain equipment and safe working practices within a modern radiotherapy department. G Lawrence, Newcastle General Hospital in Clinical Oncology, Vol. 13, No. 4
Table of contents
- INTRODUCTION
- Adoption
- Approach to the child with dysmorphism or developmental delay
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Communication skills
- Confidentiality
- Confirmation of diagnosis
- Consent for genetic testing
- Genetic code and mutations
- Imprinting
- Mitochondrial inheritance
- Multifactorial inheritance
- Reproductive options
- Testing for genetic status
- Useful resources
- X
- linked dominant inheritance
- X
- linked recessive inheritance
- 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 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 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
- COMMON CONSULTATIONS
- Achondroplasia
- Autosomal dominant polycystic kidney disease (ADPKD)
- Adrenoleukodystrophy (X
- linked)
- Alpha
- 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 (NF)
- Noonan syndrome
- Parkinson disease
- Retinitis pigmentosa
- Rett syndrome
- Sensitivity to anaesthetic agents
- Spinal muscular atrophy (SMA)
- Stickler syndrome
- Thrombophilia
- Tuberous sclerosis (TS)
- CANCER
- BRCA and BRCA
- 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 (NF)
- Ovarian cancer
- Peutz
- Jeghers syndrome (PJS)
- Phaeochromocytoma
- Retinoblastoma
- Von Hippel
- Lindau syndrome (VHL)
- Wilms tumour
- CHROMOSOMES
- q deletion syndrome
- ,XXX
- ,XXY
- ,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 )
- Edwards syndrome (Trisomy )
- Inversions
- Marker chromosomes (ESACs)
- postnatal
- Marker chromosomes (ESACs)
- prentatal
- Mosaic trisomy
- Mosaic trisomy
- Patau syndrome (Trisomy )
- 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
- 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