Oxford Desk Reference - Clinical Genetics

Paperback | July 20, 2005

byHelen V. Firth, Jane A. Hurst, Judith G. Hall

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Judith G. Hall is a 2011 Fellow of The Royal Society of Canada.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 isan 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 geneticsand 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 onfamilial 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.

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Judith G. Hall is a 2011 Fellow of The Royal Society of Canada.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 ...

Helen V Firth is a Consultant Clinical Geneticist, Addenbrookes Hospital, Cambridge, UK. Jane A Hurst is a Consultant in Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, UK. Judith G Hall is a Professor of Pediatrics and Medical Genetics, UBC and Children's and Women's Health Centre of British Columbia, Vancouver, Canada.

other books by Helen V. Firth

Oxford Handbook of Genetics
Oxford Handbook of Genetics

Kobo ebook|Oct 29 2009


Format:PaperbackDimensions:752 pages, 9.45 × 6.61 × 1.71 inPublished:July 20, 2005Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0192628968

ISBN - 13:9780192628961

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Table of Contents

Part 1: IntroductionAdoptionApproach to the consultation with a child with dysmorphism, congential malformation, or developmental delayAutosomal dominant (AD) inheritanceAutosomal recessive (AR) inheritanceCommunication skillsConfidentialityConfirmation of diagnosisConsent for genetic testingThe genetic code and mutationsGenomic imprintingMitochondrial inheritanceMultifactorial inheritanceReproductive optionsTesting for genetic statusUseful resourcesX-linked dominant (XLD) inheritanceX-linked recessive (XLR) inheritancePart 2: Clinical ApproachAmbiguous genitalia (including sex reversal)Anal anomalies (atresia, stenosis and anterior placement)Anterior segment eye malformationsArthrogryposisAtaxic adultAtaxic childBrachydactylyBroad thumbsCardiomyopathy in children under 10 yrsCataractCerebellar anomaliesCerebral palsyChondrodysplasia punctataCleft lip and palateCoarse facial featuresColobomaCongenital heart diseaseCorneal cloudingDeafnessDevelopmental delay in the child with consanguineous parentsDevelopmental regressionDuane retraction syndromeDysmorphic childDystoniaEar anomaliesFacial asymmetryFailure to thriveFloppy infantFracturesGeneralised disorders of pigmentation (including albinism)Hemihyperplasia and limb asymmetryHoloprosencephalyHydrocephalusHypermobile jointsHypoglycaemia in infancyHypospadiasIncreased bone densityLarge fontanelleLaterality disorders including heterotaxy and isomerismLeukodystrophyLimb reduction defectLissencephaly and neuronal migration disordersLumps and bumpsMacrocephalyMental retardation with apparent X-linked inheritanceMental retardationMicrocephlyMicrognathia and Robin sequenceMicrophthalmia and anophthalmiaMinor congenital anomaliesNasal anomaliesNeonatal encephalopathy and intractable seizuresNystagmusObesity with and without developmental delayOcular hypertelorismOedema - generalised or puffy extremitiesOesophageal and intestinal atresia (including tracheo-oesophageal fistula)Optic nerve hypoplasiaOvergrowthPatchy hypomelanotic skin lesionsPatchy pigmented skin lesions (including cafe au lait spots)Plagiocephaly and abnormalities of skull shapePostaxial polydactylyPreaxial polydactylyProlonged neonatal jaundice and jaundice in infants below 6 monthsPtosis blepharophimosis and other eyelid anomaliesRadial ray and thumb hypoplasiaRetinal dysplasiaRetinal receptor dystrophiesScalp defectsSeizures with developmental delayShort statureSkeletal dysplasiaStructural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia and arachnoid cysts)Suspected non-accidental injurySyndactylyUnusual hair, teeth and nailsPart 3: Common consultationsAchondroplasiaAutosomal dominant polycystic kidney disease (ADPKD)Adrenoleukodystrophy (X-linked)Alpha 1- antitrypsin deficiencyAlport syndromeAndrogen insensitivity syndrome (AIS)Angelman syndromeAutism and autistic spectrum disordersBeckwith-Wiedemann syndromeCongenital adrenal hyperplasiaConsanguinityCraniosynostosisCystic fibrosisDementiaDiabetesDilated cardiomyopathy (DCM)DNA repair defectsDuchenne and Becker muscular dystrophy (DMD and BMD)Ehlers-Danlos syndrome (EDS)Epilepsy in infants and childrenEpilepsyFacioscapulohumeral muscular dystrophy (FSHD)Fragile X syndromeGlaucomaHaemochromatosisHaemoglobinopathiesHaemophilia and other inherited coagulation disordersHereditary Haemorrhagic Telangiectasia (HHT)Hereditary motor sensory neuropathy (HMSN)Hereditary Spastic Paraplegia (HSP)Hirschprung diseaseHuntington disease (HD)HyperlipidaemiaHypertrophic cardiomyopathy (HCM)ImmunodeficiencyIncestLeigh's encephalopathyLimb girdle muscular dystrophiesLong QT and Brugada syndromesMarfan syndromeMitochondrial diseasesMyotonic dystrophyNeural tube defectsNeurofibromatosis type 1 (NF1)Noonan syndromeParkinson diseaseRetinitis pigmentosaRett syndromeSensitivity to anaesthetic agentsSpinal muscular atrophy (SMA)Stickler syndromeThrombophiliaTuberous sclerosis (TS)Part 4: CancerBRCA1 and BRCA2Breast cancerCancer surveillance methodsColorectal cancerConfirmation of diagnosisCowden syndrome (PTEN)Diet, smoking, exercise, obesityFamilal adenomatous polyposis (FAP)Gastric cancerGorlin syndromeHereditary nonpolposis colorectal cancer (HNPCC)Juvenil polyposis (JPS)Li-Fraumini syndromeMultiple endocrine neoplasia (MEN)Neurofibromatosis type 2 (NF2)Ovarian cancerPeutz-Jeghers syndrome (PJS)PhaeochromocytomaRetinoblastomaVon Hippel-Lindau syndrome (VHL)Wilms tumourPart 5: Chromosomes22q11 deletion syndrome47,XXX47,XXY47,XYYAutosomal reciprocal translocations - backgroundAutosomal reciprocal translocations - familialAutosomal reciprocal translocations - postnatalAutosomal reciprocal translocations - prenatalCell division - Mitosis, meiosis and non-disjuctionChromosomal mosaicism - postnatalChromosomal mosaicism - prenatalDeletions and duplicationsDown syndrome (Trisomy 21)Edwards syndrome (Trisomy 18)InversionsMarker chromosomes (ESACs) - postnatalMarker chromosomes (ESACs) - prentatalMosaic trisomy 8Mosaic trisomy 16Patau syndrome (Trisomy 13)Prenatal diagnosis of sex chromosome aneuploidyRing chromosomesRobertsonian translocationsSex chromosome mosaicismSubmicroscopic chromosomal rearrangements and the chromosomal phenotypeTriploidyTurner syndromeX-autosome translocationPart 6: Pregnancy and fertilityAnterior abdominal wall defectsAssisted reproductive technologies - PGD, ICSI and IVFBowed limbsClubfoot (Talipes)Congenital cystic lung lesions, Currarino syndrome and Sacrococcygeal teratomasCongenital diaphragmatic herniaCytomegalovirus (CMV)Dandy-Walker malformationDrugs in pregnancyFemale infertilityFetal alcohol syndromeFetal anticonvulsant syndromeFetomaternal alloimmunisation (Rhesus D and thrombocytopaenia)Hyperechogenic bowelHypoplastic left heartImaging in prenatal diagnosisInvasive techniques and genetic tests in prenatal diagnosisLow maternal serum oestriolMale infertilityMaternal ageMaternal diabetes mellitus and diabetic embryopathyMaternal PKUMiscarriage and recurrent miscarriageOedema - nuchal translucency, cystic hygroma and hydropsPremature ovarian failureRadiation exposure and landfill sitesRenal tract anomaliesRubellaShort limbsToxoplasmosisTwins and twinningVaricellaVentriculomegalyAppendixCarrier frequency and carrier testing for autosomal recessive disordersCentile charts for height, weight and OFCConversion charts for lb to kg and ft and inches to cmDenver developmental screening testDistribution of muscle weakness in different types of muscular dystrophyHaploid autosomal lengths of human chromosomesInvestigation of lethal metabolic disorder or skeletal dysplasiaNormal range of aortic root dimensionsPaternity testingPatterns of cancerBanding pattern of human chromosomesBayes TheoremBehaviour pattern profileBeighton score for joint hypermobilityCK levels for carrier testing in DMDDiagrams of FISH and microarrayDysmorphology examination checklistFamily tree sheet and symbolsInheritance patternsISCN nomenclatureKaryotypesLine drawings of a) amniocentesis, and b) CVSPicture of muscle cellRadiological investigations including MRISample consent form for consent from relatives regarding diagnosis or test resultsSample consent form for genetic testingSkeletal dysplasia chartsStaging of puberty

Editorial Reviews

`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 commonlypresent 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