Oxford Desk Reference: Clinical Genetics and Genomics / Edition 2

by Helen V. Firth, Jane A. Hurst

Overview

A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine.

Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts.

The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies.

The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex.

Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Product Details

ISBN-13:	9780199557509
Publisher:	Oxford University Press
Publication date:	11/07/2017
Series:	Oxford Desk Reference Series
Edition description:	2nd ed.
Pages:	944
Sales rank:	814,066
Product dimensions:	6.70(w) x 9.80(h) x 2.10(d)

About the Author

Helen V. Firth, Consultant in Clinical Genetics, Cambridge University Hospitals, Cambridge, UK and Hon Faculty Member, Wellcome Trust Sanger Institute, Hinxton, UK,Jane A. Hurst, Consultant in Clinical Genetics, Great Ormond Street Hospital, London, UK

Dr Helen Firth, DM FRCP DCH is a Consultant Clinical Geneticist at Cambridge University Hospitals, an Honorary Faculty Member of the Wellcome Trust Sanger Institute, and a Bye-Fellow of Newnham College, Cambridge. Her main research interests are in mapping the clinical genome and the matching of rare genomic variants to empower discovery and diagnosis in rare disease.

In 2004, she initiated the DECIPHER project (http://decipher.sanger.ac.uk) that enables clinicians and scientists around the world to share information about rare genomic variants to facilitate diagnosis and help to elucidate the role of genes whose function is not yet known. In 2010 Dr Firth became Clinical Lead for the Deciphering Developmental Disorders study (DDD study) (http://www.ddduk.org), one of the world's largest nationwide, genome-wide sequencing projects in rare disease. The study aims to improve diagnosis and further understanding of the genomic architecture of severe developmental disorders.

Dr Jane Hurst is a clinician working full time as a clinical geneticist in the one of the leading children's hospitals in the world; a centre of excellence for the diagnosis and treatment of rare diseases. She moved to her current post in 2010 to lead the dysmorphology service after 18 years working in Oxford, UK.

Although primarily a patient-focussed clinician, she has always worked closely with scientific colleagues by identifying families that give important clues to the genetic aetiology. Thus early in her career she identified the first family shown to have leptin deficiency and the two families that led to the cloning of the FOXP2 gene.

Table of Contents

IntroductionAdoptionApproach to the consultation with a child with dysmorphism, congenital malformation or developmental delayAutosomal dominant (AD) inheritanceAutosomal recessive (AR) inheritanceCommunication skillsComplex inheritanceConfidentialityConfirmation of diagnosisConsent for genetic testingGenetic basis of cancerGenetic code and mutationsGenomes and genomic variationGenomic imprintingGenomic sequencing and interpretation of data from WES or WGS analysesMitochondrial inheritanceReproductive optionsTesting for genetic statusTiming and origin of new dominant mutationsUseful resourcesX-linked dominant (XLD), semi-dominant, pseudoautosomal and male sparing inheritanceX-linked recessive inheritanceClinical ApproachAmbiguous genitalia (including sex reversal)Anal anomalies (atresia, stenosis)Anterior segment eye malformationsArthrogryposisAtaxic adultAtaxic childBrachydactylyBroad thumbsCardiomyopathy in children under 10 yearsCataractCerebellar anomaliesCerebral palsyChondrodysplasia punctataCleft lip and palateCoarse facial featuresColobomaCongenital heart diseaseCongenital hypothyroidismCorneal cloudingDeafness in early childhoodDevelopmental delay in the child with consanguineous parentsDevelopmental regressionDuane retraction syndromeDysmorphic childDystoniaEar anomaliesFacial asymmetryFailure to thriveFloppy infantFracturesGeneralized disorders of skin pigmentation (including albinism)Hemihypertrophy and limb asymmetryHoloprosencephalyHydrocephalusHypermobile jointsHypoglycaemia in the neonate and infantHypospadiasIntellectual disabilityIntellectual disability with apparent X-linked inheritanceIncreased bone densityIntracranial calcificationLarge fontanelleLaterality disorders including heterotaxy and isomerismLeukodystrophy/leukoencephalopathyLimb reduction defectsLissencephaly, polymicrogyria and neuronal migration disordersLumps and bumpsMacrocephalyMicrocephalyMicrognathia and Robin sequenceMicrophthalmia and anophthalmiaMinor congenital anomaliesNasal anomaliesNeonatal encephalopathy and intractable seizuresNystagmusObesity with and without developmental delayOcular hypertelorismOedema generalized or puffy extremetiesOesophageal and intestinal atresia (including tracheo-oesophageal fistula)Optic nerve hypoplasiaOvergrowthPatchy hypo- or de-pigmented skin lesionsPatchy pigmented skin lesions (including cafe-au-lait spots)Plagiocephaly and abnormalities of skull shapePolydactylyProlonged neonatal jaundice and jaundice in infants below 6 monthsPtosis, blepharophimosis and other eyelid anomaliesRadial ray defects and thumb hypoplasiaRetinal dysplasiaRetinal receptor dystrophiesScalp defectsSeizures with developmental delay/intellectual disabilityShort statureSkeletal dysplasiasStructural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia and arachnoid cysts)Sudden cardiac deathSuspected non-accidental injurySyndactyly (other than 2-3 toe syndactyly)Unusual hair, teeth, nails and skinCommon consultationsAchondroplasiaAlpha1-antitrypsin deficiencyAlport syndromeAndrogen insensitivity syndrome (AIS)Angelman syndromeAutism and autism spectrum disordersAutosomal dominant polycystic kidney disease (ADPKD)Beckwith-Wiedemann syndrome (BWS)Charcot-Marie-Tooth disorder (CMT)CiliopathiesCongenital adrenal hyperplasia (CAH)ConsanguinityCraniosynostosisCystic fibrosis (CF)Dementia early onset and familial formsDiabetes mellitusDilated cardiomyopathy (DCM)DNA repair defectsDuchenne and Becker muscular dystrophy (DMD and BMD)Ehlers-Danlos syndromeEpilepsy in infants and childrenEpilepsy in adultsFascioscapulo-humeral muscular dystrophy (FSHD)Fragile X syndrome (FRAX)GlaucomaHaemochromatosisHaemoglobinopathiesHaemophilia and other inherited coagulation disordersHereditary haemorrhagic telangiectasia (HHT)Herediatry spastic paraplegia (HSP)Hirschprung diseaseHuntington disease (HD)HyperlipidaemiasHypertrophic cardiomyopathy (HCM)Immunodeficiency and recurrent infectionIncestLeigh encephalopathyLimb-girdle muscular dystrophiesLong QT and Brugada syndromesMarfan syndromeMitochondrial DNA diseasesMyotonic dystrophy (DM1)Neural tube defectsNeurofibromatosis type 1 (NF1)Noonan syndrome and the RAS-MAPK pathway disordersParkinson diseaseRetinitis pigmentosa (RP)Rett syndromeSensitivity to anaesthetic agentsSpinal muscular atrophy (SMA)Stickler syndromeThrombophiliaTuberous sclerosis (TSC)X-linked adrenoleukodystrophy (X-ALD)CancerBRCA1 and BRCA2Breast cancerCancer surveillance methodsColorectal cancer (CRC)Confirmation of diagnosis of cancerCowden syndrome (CS)Familial Adenomatous Polyposis (FAP) and adenomatous polyposis (due to MUTYH, NTHL1, POLE & POLD1)Gastric cancerGorlin syndromeJuvenile polyposis syndrome (JPS)Lynch syndromeLifestyle factors in cancer: smoking, alcohol, obesity, diet and exerciseLi-Fraumini syndrome (LFS)Multiple endocrine neoplasia (MEN)Neurofibromatosis type 2 (NF2)Ovarian cancerPeutz-Jeghers syndrome (PJS)Phaeochromocytoma and ParagangliomaProstate cancerRenal cancerRetinoblastomavon Hippel-Lindau (VHL) diseaseWilms tumourChromosomes22q11 deletion syndrome47,XXX47,XXY47,XYYAutosomal reciprocal tranlsocations backgroundAutosomal reciprocal translocations familialAutosomal reciprocal translocations postnatalAutosomal reciprocal translocations prenatalCell division mitosis, meiosis and non-disjunctionChromosomal mosaicism postnatalChromosomal mosaicism prenatalDeletions and duplications (including microdeletions and microduplications)Down syndrome (trisomy 21)Edwards syndrome (trisomy 18)InversionsMosaic trisomy 8Mosaic trisomy 16Patau syndrome (trisomy 13)Prenatal diagnosis of sex chromosome aneuploidyRing chromosomesRobertsonian translocationsSex chromosome mosaicismSupernumerary marker chromosomes (SMCs) postnatalSupernumerary marker chromosomes (SMCs) prenatalTriploidy (69,XXX, 69XXY or 69,XYY)Turner syndrome, 45,X and variantsX-autosome translocationsPregnancy and fertilityAnterior abdominal wall defectsAssisted reproductive technology: in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) and pre-implantation genetic diagnosis (PGD)Bowed limbsCongenital cystic lung lesions, Currarino syndrome, and sacrococcygeal teratomaCongenital diaphragmatic herniaCytomegalovirus (CMV)Drugs in pregnancyFemale infertility and amenorrhoea: genetic aspectsFetal alcohol syndrome (FAS)Fetal anticonvulsant syndrome (FACS)Fetal akinesiaFetomaternal alloimmunisation (rhesus D and thrombocytopaenia)Hyperechogenic bowelHyoplastic left heartImaging in prenatal diagnosisInvasive techniques and genetic tests in prenatal diagnosisLow maternal serum oestriolMale infertility: genetic aspectsMaternal ageMaternal diabetes mellitus and diabetic embryopathyMaternal phenylketonuria (PKU)Miscarriage and recurrent miscarriageNeonatal (newborn) screening (NS)Non-invasive prenatal diagnosis/testing (NIPD/T)Oedema increased nuchal translucency, cystic hygroma and hydropsOligohydramnios (Including Potter/ Oligohydramnios sequence)Paternal agePolyhydramniosPosterior fossa malformationsPremature ovarian failure (POF)Radiation exposure, chemotherapy, and landfill siteRubellaShort limbsTalipes (Club foot)ToxoplasmosisTwins and twinningUrinary tract and renal anomalies (Congenital anomalies of the kidney and urinary tract - CAKUT)VaricellaVentriculomegalyAppendixAntenatal and neonatal screening timelinesBayes theoremCarrier frequency and carrier testing for autosomal recessive disordersCentile charts for boys height and weightCentile charts for girls height and weightCentile charts for occipital-frontal circumference (OFC)CK (Creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD)Conversion charts from English to metric units for height and weightDenver Developmental Screening TestDistribution of muscle weakness in different types of muscular dystrophyDysmorphology examination checklistEmbryonic fetal development (overview)Family tree sheet and symbolsHaploid autosomal lengths of human chromosomesInvestigation of lethal metabolic disorder or skeletal dysplasiaISCN NomenclatureKaryotypesNormal range of aortic root dimensionsPaternity testingPatterns of cancerRadiological investigations including magnetic resonance imaging (MRI)Skeletal dysplasia chartsStaging of puberty

Editorial Reviews

"Put simply, this is a fascinating and highly readable book that covers a vast tract of the genetics and genomics field. There is a superb mix of science and clinical angles, offering vast amounts of highly relevant reading as well as being an excellent reference source. The logical layout and clear writing style make it easy to understand and this book deserves to reach a wide audience." — Dr Harry Brown, Glycosmedia

From the Publisher