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• Title:[Oxford desk reference. Clinical genetics]
  Oxford desk reference. Clinical genetics and genomics / Helen V. Firth, Jane A. Hurst.
  
•    
• Variant Title:Clinical genetics and genomics
  
• Author/Creator:Firth, Helen V., author.
  
• Other Contributors/Collections:Hurst, Jane A., author.
  
• Published/Created:Oxford, United Kingdom : Oxford University Press, 2017.
  

• Holdings

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  • Location:WOODWARD LIBRARY stacksWhere is this?
    
  • Call Number: QZ39 .F527o 2017
    
  • Number of Items:1
    
  • Status:Available
    

   
• Library of Congress Subjects:Medical genetics--Handbooks, manuals, etc.
  Genomics--Handbooks, manuals, etc.
  
• Medical Subjects: Genetics, Medical.
  Genomics.
  Chromosome Aberrations.
  Genetic Diseases, Inborn.
  Genetic Predisposition to Disease.
  
• Edition:Second edition.
  
• Description:lv, 877 pages : illustrations ; 26 cm
  
• Series:Oxford desk reference series.
  Oxford medical publications.
  
• Notes:Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.
  Includes bibliographical references and index.
  
• ISBN:9780199557509
  0199557500
  9780192519825
  0192519824
  
• Contents:Machine generated contents note: 1. Introduction
  Adoption
  Approach to the consultation with a child with dysmorphism, congenital malformation, or developmental delay
  Autosomal dominant (AD) inheritance
  Autosomal recessive (AR) inheritance
  Communication skills
  Complex inheritance
  Confidentiality
  Confirmation of diagnosis
  Consent for genetic testing
  Genetic basis of cancer
  Genetic code and mutations
  Genomes and genomic variation
  Genomic imprinting
  Genomic sequencing and interpretation of data from WES or WGS analyses
  Mitochondrial inheritance
  Reproductive options
  Testing for genetic status
  Timing and origin of new dominant mutations
  Useful resources
  X-linked dominant (XLD), semi-dominant, pseudoautosomal, and male-sparing inheritance
  X-linked recessive (XLR) inheritance
  2. Clinical approach
  Ambiguous genitalia (including sex reversal)
  Anal anomalies (atresia, stenosis)
  Anterior segment eye malformations
  Arthrogryposis
  Ataxic adult
  Ataxic child
  Brachydactyly
  Broad thumbs
  Cardiomyopathy in children under 10 years
  Cataract
  Cerebellar anomalies
  Cerebral palsy
  Chondrodysplasia punctata
  Cleft lip and palate
  Coarse facial features
  Coloboma
  Congenital heart disease
  Congenital hypothyroidism
  Corneal clouding
  Deafness in early childhood
  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
  Generalized disorders of skin pigmentation (including albinism)
  Hemihypertrophy and limb asymmetry
  Holoprosencephaly (HPE)
  Hydrocephalus
  Hypermobile joints
  Hypertrichosis
  Hypoglycaemia in the neonate and infant
  Hypospadias
  Intellectual disability
  Intellectual disability with apparent X-linked inheritance
  Increased bone density
  Intracranial calcification
  Large fontanelle
  Laterality disorders including heterotaxy and isomerism
  Leukodystrophy/leukoencephalopathy
  Limb reduction defects
  Lissencephaly, polymicrogyria, and neuronal migration disorders
  Lumps and bumps
  Macrocephaly
  Microcephaly
  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
  -generalized or puffy extremities
  Oesophageal and intestinal atresia (including tracheo-oesophageal fistula)
  Optic nerve hypoplasia
  Overgrowth
  Patchy hypo- or depigmented skin lesions
  Patchy pigmented skin lesions (including cafe-au-lait spots)
  Plagiocephaly and abnormalities of skull shape
  Polydactyly
  Prolonged neonatal jaundice and jaundice in infants below 6 months
  Ptosis, blepharophimosis, and other eyelid anomalies
  Radial ray defects and thumb hypoplasia
  Retinal dysplasia
  Retinal receptor dystrophies
  Scalp defects
  Seizures with developmental delay/intellectual disability
  Short stature
  Skeletal dysplasias
  Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia, and arachnoid cysts)
  Sudden cardiac death
  Suspected non-accidental injury
  Syndactyly (other than 2/3 toe syndactyly)
  Unusual hair, teeth, nails, and skin
  3. Common consultations
  Achondroplasia
  Alpha-1 antitrypsin deficiency
  Alport syndrome
  Androgen insensitivity syndrome (AIS)
  Angel man syndrome
  Autism and autism spectrum disorders
  Autosomal dominant polycystic kidney disease (ADPKD)
  Beckwith-Wiedemann syndrome (BWS)
  Charcot
  Marie
  Tooth disease (CMT)
  Ciliopathies
  Congenital adrenal hyperplasia (CAH)
  Consanguinity
  Craniosynostosis
  Cystic fibrosis (CF)
  Dementia
  -early onset and familial forms
  Diabetes mellitus
  Dilated cardiomyopathy (DCM)
  DNA repair disorders
  Duchenne and Becker muscular dystrophy (DMD and BMD)
  Ehlers-Danlos syndrome (EDS)
  Epilepsy in infants and children
  Epilepsy in adults
  Facioscapulohumeral muscular dystrophy (FSHD)
  Fragile X syndrome (FRAX)
  Glaucoma
  Haemochromatosis
  Haemoglobinopathies
  Haemophilia and other inherited coagulation disorders
  Hereditary haemorrhagic telangiectasia (HHT)
  Hereditary spastic paraplegias (HSP)
  Hirschsprung's disease
  Huntington disease (HD)
  Hyperlipidaemia
  Hypertrophic cardiomyopathy (HCM)
  Immunodeficiency and recurrent infection
  Incest
  Leigh encephalopathy
  Limb
  girdle muscular dystrophies
  Long QT syndrome and other inherited arrhythmia syndromes
  Marfan's syndrome
  Mitochondrial DNA diseases
  Myotonic dystrophy (DM1)
  Neural tube defects
  Neurofibromatosis type 1 (NF1)
  Noonan syndrome and the Ras/MAPK pathway syndromes: neuro-cardio-facial-cutaneous syndromes
  Parkinson's disease
  Retinitis pigmentosa (RP)
  Rett syndrome
  Sensitivity to anaesthetic agents
  Spinal muscular atrophy (SMA)
  Stickler syndrome
  Thrombophilia
  Tuberous sclerosis (TSC)
  X-linked adrenoleukodystrophy (X-ALD)
  4. Cancer
  BRCA1 and BRCA2
  Breast cancer
  Cancer surveillance methods
  Colorectal cancer (CRC)
  Confirmation of diagnosis of cancer
  Cowden syndrome (PTEN hamartoma tumour syndrome (PHTS))
  Familial adenomatous polyposis (FAP) and adenomatous polyposis due to MUTYH, NTHL1, POLE, and POLD1
  Gastric cancer
  Gorlin syndrome
  Juvenile polyposis syndrome (JPS)
  Lifestyle factors in cancer: smoking, alcohol, obesity, diet, and exercise
  Li
  Fraumeni syndrome (LFS)
  Lynch syndrome (LS)
  Multiple endocrine neoplasia (MEN)
  Neurofibromatosis type 2 (NF2)
  Ovarian cancer
  Peutz
  Jeghers syndrome (PJS)
  Phaeochromocytoma and paraganglioma
  Prostate cancer
  Renal cancer
  Retinoblastoma
  von Hippel
  Lindau (VHL) disease
  Wilms tumour
  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-disjunction
  Chromosomal mosaicism
  -postnatal
  Chromosomal mosaicism
  -prenatal
  Deletions and duplications (including microdeletions and microduplications)
  Down's syndrome (trisomy 21)
  Edwards' syndrome (trisomy 18)
  Inversions
  Mosaic trisomy 8
  Mosaic trisomy 16
  Patau syndrome (trisomy 13)
  Prenatal diagnosis of sex chromosome aneuploidy
  Ring chromosomes
  Robertsonian translocations
  Sex chromosome mosaicism
  Supernumerary marker chromosomes (SMCs)
  -postnatal
  Supernumerary marker chromosomes (SMCs)
  -prenatal
  Triploidy (69,XXX, 69XXY, or 69,XYY)
  Turner syndrome, 45,X, and variants
  X-autosome translocations
  6. Pregnancy and fertility
  Anterior abdominal wall defects
  Assisted reproductive technology: in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) and pre-implantation genetic diagnosis (PGD)
  Bowed limbs
  Congenital cystic lung lesions, Currarino syndrome, and sacrococcygeal teratoma
  Congenital diaphragmatic hernia
  Cytomegalovirus (CMV)
  Drugs in pregnancy
  Female infertility and amenorrhoea: genetic aspects
  Fetal akinesia
  Fetal alcohol syndrome (FAS)
  Fetal anticonvulsant syndrome (FACS)
  Fetomaternal alloimmunization (rhesus D and thrombocytopenia)
  Hyperechogenic bowel
  Hypoplastic left heart
  Imaging in prenatal diagnosis
  Invasive techniques and genetic tests in prenatal diagnosis
  Low maternal serum oestriol
  Male infertility: genetic aspects
  Maternal age
  Maternal diabetes mellitus and diabetic embryopathy
  Maternal phenylketonuria (PKU)
  Miscarriage and recurrent miscarriage
  Neonatal (newborn) screening (NS)
  Non-invasive prenatal diagnosis/testing (NIPD/T)
  Oedema
  -increased nuchal translucency, cystic hygroma, and hydrops
  Oligohydramnios (including Potter/oligohydramnios sequence)
  Paternal age
  Polyhydramnios
  Posterior fossa malformations
  Premature ovarian failure (POF)
  Radiation exposure, chemotherapy, and landfill sites
  Rubella
  Short limbs
  Talipes (club-foot)
  Toxoplasmosis
  Twins and twinning
  Urinary tract and renal anomalies (congenital anomalies of the kidney and urinary tract
  -CAKUT)
  Varicella
  Ventriculomegaly
  Appendix
  Antenatal and neonatal screening timelines
  Bayes' theorem
  Carrier frequency and carrier testing for autosomal recessive disorders
  Centile charts for boys' height and weight
  Centile charts for girls' height and weight
  Centile charts for occipital
  frontal circumference (OFC)
  CK (creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD)
  Conversion charts
  -imperial to metric
  Denver Developmental Screening Test
  Distribution of muscle weakness in different types of muscular dystrophy
  Dysmorphology examination checklist
  Embryonic fetal development (overview)
  Family tree sheet and symbols
  Haploid autosomal lengths of human chromosomes
  Investigation of lethal metabolic disorder or skeletal dysplasia
  ISCN nomenclature
  Karyotypes
  Normal range of aortic root dimensions
  Paternity testing
  Contents note continued: Patterns of cancer
  Radiological investigations including magnetic resonance imaging (MRI)
  Skeletal dysplasia charts
  Staging of puberty
  Surveillance for individuals at increased genetic risk of colorectal cancer.