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.
Contents: فهرست فصول
1 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 (XLR) inheritance2 Clinical 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 asymmetryHoloprosencephaly (HPE)HydrocephalusHypermobile jointsHypertrichosisHypoglycaemia 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 extremitiesOesophageal and intestinal atresia (including tracheo-oesophageal fistula)Optic nerve hypoplasiaOvergrowthPatchy hypo- or depigmented skin lesionsPatchy pigmented skin lesions (including café-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 skin3 Common consultationsAchondroplasiaAlpha-1 antitrypsin deficiencyAlport syndromeAndrogen insensitivity syndrome (AIS)Angelman syndromeAutism and autism spectrum disordersAutosomal dominant polycystic kidney disease (ADPKD)Beckwith–Wiedemann syndrome (BWS)Charcot–Marie–Tooth disease (CMT)CiliopathiesCongenital adrenal hyperplasia (CAH)ConsanguinityCraniosynostosisCystic fiBrosis (CF)Dementia—early onset and familial formsDiabetes mellitusDilated cardiomyopathy (DCM)DNA repair disordersDuchenne and Becker muscular dystrophy (DMD and BMD)Ehlers–Danlos syndrome (EDS)Epilepsy in infants and childrenEpilepsy in adultsFacioscapulohumeral muscular dystrophy (FSHD)Fragile X syndrome (FRAX)GlaucomaHaemochromatosisHaemoglobinopathiesHaemophilia and other inherited coagulation disordersHereditary haemorrhagic telangiectasia (HHT)Hereditary spastic paraplegias (HSP)Hirschsprung’s diseaseHuntington disease (HD)HyperlipidaemiaHypertrophic cardiomyopathy (HCM)Immunodeficiency and recurrent infectionIncestLeigh encephalopathyLimb–girdle muscular dystrophiesLong QT syndrome and other inherited arrhythmia syndromesMarfan’s syndromeMitochondrial DNA diseasesMyotonic dystrophy (DM1)Neural tube defectsNeurofibromatosis type 1 (NF1)Noonan syndrome and the Ras/MAPK pathway syndromes: neuro-cardio-facial-cutaneous syndromesParkinson’s diseaseRetinitis pigmentosa (RP)Rett syndromeSensitivity to anaesthetic agentsSpinal muscular atrophy (SMA)Stickler syndromeThrombophiliaTuberous sclerosis (TSC)X-linked adrenoleukodystrophy (X-ALD)4 CancerBRCA1 and BRCA2Breast cancerCancer surveillance methodsColorectal cancer (CRC)Confirmation of diagnosis of cancerCowden syndrome (PTEN hamartoma tumour syndrome (PHTS))Familial adenomatous polyposis (FAP) and adenomatous polyposis due to MUTYH, NTHL1, POLE, and POLD1Gastric cancerGorlin syndromeJuvenile polyposis syndrome (JPS)Lifestyle factors in cancer: smoking, alcohol, obesity, diet, and exerciseLi–Fraumeni syndrome (LFS)Lynch syndrome (LS)Multiple endocrine neoplasia (MEN)Neurofibromatosis type 2 (NF2)Ovarian cancerPeutz–Jeghers syndrome (PJS)Phaeochromocytoma and paragangliomaProstate cancerRenal cancerRetinoblastomavon Hippel–Lindau (VHL) diseaseWilms tumour5 Chromosomes22q11 deletion syndrome47,XXX47,XXY47,XYYAutosomal reciprocal translocations—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’s 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 translocations6 Pregnancy 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 akinesiaFetal alcohol syndrome (FAS)Fetal anticonvulsant syndrome (FACS)Fetomaternal alloimmunization (rhesus D and thrombocytopenia)Hyperechogenic bowelHypoplastic 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 sitesRubellaShort 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—imperial to metricDenver 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 pubertySurveillance for individuals at increased genetic risk of colorectal cancerIndex