Atlas of genetic diagnosis and counseling /

Atlas of genetic diagnosis and counseling /

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"A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis,...

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Bibliographic Details
Main Author: Chen, Harold
Format: Book
Language:English
Published: Totowa, N.J. : Humana Press, c2006
Totowa, N.J. : ©2006
Subjects:
Genetic counseling > Atlases
Genetic disorders > Diagnosis > Atlases
Conseil génétique > Atlas
Conseil génétique > Atlas
Maladies génétiques > Diagnostic > Atlas
Maladies héréditaires > Diagnostic > Atlas
Genetic counseling
Genetic disorders > Diagnosis
HEALTH & FITNESS > Diseases > Genetic
MEDICAL > Genetics
Conseil génétique
Genetic Diseases, Inborn
Maladies héréditaires > Diagnostic
Prenatal diagnosis
Genetic Diseases, Inborn > Atlases
Genetic Counseling > Atlases
Genetic Counseling
Prenatal Diagnosis > Atlases
Prenatal Diagnosis
Electronic books
Scientific atlases
Table of Contents:
  • Arcadia
  • Achondrogenesis
  • Achondroplasia
  • Adams-Oliver syndrome
  • Agnathia
  • Aicardi syndrome
  • Alagille syndrome
  • Albinism
  • Amniotic band syndrome
  • Androgen insensitivity syndrome
  • Angelman syndrome
  • Apert syndrome
  • Aplasia cutis congenita
  • Arthrogryposis multiplex congenita
  • Asphyxiating thoracic dystrophy
  • Ataxia telangiectasia
  • Atelosteogenesis
  • Autism
  • Beckwith-Wiedemann syndrome
  • Behcet disease
  • Bladder exstrophy
  • Body stalk anamoly
  • Branchial clefts anamolies
  • Campomelic dysplasia
  • Cat eye syndrome
  • Cerebro-costo-mandibular syndrome
  • Charcot-Marie-Tooth disease
  • CHARGE Association
  • Cherubism
  • Chiari malformation
  • Chondrodysplasia punctata
  • Chromosome abnormalities in pediatric solid tumors
  • Cleft lip and/or cleft palate
  • Cleidocranial dysplasia
  • Cloacal exstrophy
  • Collodion baby
  • Congenital adrenal hyperplasia (21-hydroxylase deficiency)
  • Congenital cutis laxa
  • Congenital cytomegalovirus infection
  • Congenital generalized lipodystrophy
  • Congenital hydrocephalus
  • Congenital hypothyriodism
  • Congenital muscular dystrophy
  • Congenital toxoplasmosis
  • Conjoined twins
  • Corpus callosum agenesis/dysgenesis
  • Craniometaphysical dysplasia
  • Cri-du-chat syndrome
  • Crouzon syndrome
  • Cystic fibrosis
  • Dandy-Walker malformation
  • De Lange syndrome
  • Del(22q11.2) syndromes
  • Diabetic embryopathy
  • Down syndrome
  • Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia
  • Dysmelia (limb deficiency/reduction)
  • Dysplasia epiphysealis hemimelica
  • Dystonia
  • Dystrophinopathies
  • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
  • Dhlers-Danlos syndrome
  • Ellis-van Creveld syndrome
  • Enchondromatosis (Maffucci syndrome; Ollier syndrome)
  • Epidermolysis bullosa
  • Epidermolytic palmoplantar keratoderma
  • Faciogenital (Aarskog) dysplasia
  • Facioscapulohumeral muscular dystrophy
  • Familial adenomatous polyposis
  • Familial hyperlysinemia
  • Fanconi anemia
  • Femoral hypoplasia-unusual facies syndrome
  • Fetal akinesia syndrome
  • Fetal alcohol syndrome
  • Fibrodysplasia ossificans progressiva
  • Finlay-Marks syndrome
  • Fragile X syndrome
  • Fraser syndrome
  • Freeman-Sheldon syndrome
  • Frontonasal dysplasia
  • Galactosemia
  • Gastroschisis
  • Gaucher disease
  • Generalized arterial calcification of infancy
  • Glucose 6-phosphate dehydrogenase deficiency
  • Glycogen storage disease, type II
  • Goldenhar syndrome
  • Hallermann-Streiff syndrome
  • Harlequin ichthyosis (harlequin fetus)
  • Hemophilia A
  • Hereditary hemochromatosis
  • Hereditary multiple exostoses
  • Holoprosencephaly
  • Holt-Oram syndrome
  • Hydrops fetalis
  • Hyper-IgE syndrome
  • Hypochondroplasia
  • Hypoglossia-hypodactylia syndrome
  • Hypohidrotic ectodermal dysplasia
  • Hypomelanosis of Ito
  • Hypophosphatasia
  • Incontinentia pigmenti
  • Infantile myofibromatosis
  • Ivemark syndrome
  • Jarcho-Levin syndrome
  • Kabuki syndrome
  • Kasabach-Merritt syndrome
  • KID syndrome
  • Klinefelter syndrome
  • Klippel-Feil syndrome
  • Klippel-Trenaunay syndrome
  • Kniest dysplasia
  • Larsen syndrome
  • LEOPARD syndrome
  • Lesch-Nyhan syndrome
  • Lethal multiple pterygium syndrome
  • Lowe syndrome
  • Marfan syndrome
  • McCune-Albright syndrome
  • Meckel-Gruber syndrome
  • Menkes disease (Kinky-hair syndrome)
  • Metachromatic leukodystrophy
  • Miller-Dieker syndrome
  • Möbius syndrome
  • Mucolipidosis II (I-cell disease)
  • Mucolipidosis III (pseudo-Hurler polydystrophy)
  • Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes
  • Mucopolysaccharidosis II (Hunter syndrome)
  • Mucopolysaccharidosis III (Sanfilippo syndrome)
  • Mucopolysaccharidosis IV (Morquio syndrome)
  • Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
  • Multiple epiphyseal dysplasia
  • Multiple pterygium syndrome
  • Myotonic dystrophy type I
  • Netherton syndrome
  • Neu-Laxova syndrome
  • Neural tube defects
  • Neurofibromatosis I
  • Noonan syndrome
  • Oblique facial cleft syndrome
  • Oligohydramnios sequence
  • Omphalocele
  • Osteogenesis imperfecta
  • Osteopetrosis
  • Pachyonychia congenita
  • Pallister-Killian syndrome
  • Phenylketonuria (PKU)
  • Pierre Robin sequence
  • Polycystic kidney disease, autosomal dominant type
  • Polycystic kidney disease, autosomal recessive type
  • Prader-Willi syndrome
  • Progeria
  • Prune belly syndrome
  • Pseudoachondroplasia
  • R(18) syndrome
  • Retinoid embyopathy
  • Rett syndrome
  • Rickets
  • Roberts syndrome
  • Robinow syndrome
  • Rubinstein-Taybi syndrome
  • Schizencephaly
  • Schmid metaphyseal chondrodysplasia
  • Seckel syndrome
  • Severe combined immune deficiency
  • Short rib polydactyly sydromes
  • Sickle cell disease
  • Silver-Russell syndrome
  • Sirenomelia
  • Smith-Lemli-Opitz syndrome
  • Smith-Magenis syndrome
  • Sotos syndrome
  • Spinal muscular atrophy
  • Spondyloepiphyseal dysplasia
  • Stickler syndrome
  • Sturge-Weber syndrome
  • Tay-Sachs disease
  • Tetrasomy 9p syndrome
  • Thalassemia
  • Thanatophoric dysplasia
  • Thrombocytopenia-absent radius syndrome
  • Treacher-Collins syndrome
  • Trimethylaminuria
  • Triploidy
  • Trismus pseudocamptodactyly syndrome
  • Trisomy 13 syndrome
  • Trisomy 18 syndrome
  • Tuberous sclerosis
  • Turner syndrome
  • Twin-twin transfusion syndrome
  • Ulnar-mammary syndrome
  • VATER (VACTERL) Association
  • Von Hippel-Lindau disease
  • Waardenburg syndrome
  • Williams syndrome
  • Wolf-Hirschhorn syndrome
  • X-linked ichthyosis
  • XXX syndrome
  • XXXXX syndrome
  • XXXXY syndrome
  • XY female
  • XYY syndrome
  • Arcadia
  • Achondrogenesis
  • Achondroplasia
  • Adams-Oliver syndrome
  • Agnathia
  • Aicardi syndrome
  • Alagille syndrome
  • Albinism
  • Amniotic band syndrome
  • Androgen insensitivity syndrome
  • Angelman syndrome
  • Apert syndrome
  • Aplasia cutis congenita
  • Arthrogryposis multiplex congenita
  • Asphyxiating thoracic dystrophy
  • Ataxia telangiectasia
  • Atelosteogenesis
  • Autism
  • Beckwith-Wiedemann syndrome
  • Behcet disease
  • Bladder exstrophy
  • Body stalk anamoly
  • Branchial clefts anamolies
  • Campomelic dysplasia
  • Cat eye syndrome
  • Cerebro-costo-mandibular syndrome
  • Charcot-Marie-Tooth disease
  • CHARGE Association
  • Cherubism
  • Chiari malformation
  • Chondrodysplasia punctata
  • Chromosome abnormalities in pediatric solid tumors
  • Cleft lip and/or cleft palate
  • Cleidocranial dysplasia
  • Cloacal exstrophy
  • Collodion baby
  • Congenital adrenal hyperplasia (21-hydroxylase deficiency)
  • Congenital cutis laxa
  • Congenital cytomegalovirus infection
  • Congenital generalized lipodystrophy
  • Congenital hydrocephalus
  • Congenital hypothyriodism
  • Congenital muscular dystrophy
  • Congenital toxoplasmosis
  • Conjoined twins
  • Corpus callosum agenesis/dysgenesis
  • Craniometaphysical dysplasia
  • Cri-du-chat syndrome
  • Crouzon syndrome
  • Cystic fibrosis
  • Dandy-Walker malformation
  • De Lange syndrome
  • Del(22q11.2) syndromes
  • Diabetic embryopathy
  • Down syndrome
  • Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia
  • Dysmelia (limb deficiency/reduction)
  • Dysplasia epiphysealis hemimelica
  • Dystonia
  • Dystrophinopathies
  • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
  • Dhlers-Danlos syndrome
  • Ellis-van Creveld syndrome
  • Enchondromatosis (Maffucci syndrome; Ollier syndrome)
  • Epidermolysis bullosa
  • Epidermolytic palmoplantar keratoderma
  • Faciogenital (Aarskog) dysplasia
  • Facioscapulohumeral muscular dystrophy
  • Familial adenomatous polyposis
  • Familial hyperlysinemia
  • Fanconi anemia
  • Femoral hypoplasia-unusual facies syndrome
  • Fetal akinesia syndrome
  • Fetal alcohol syndrome
  • Fibrodysplasia ossificans progressiva
  • Finlay-Marks syndrome
  • Fragile X syndrome
  • Fraser syndrome
  • Freeman-Sheldon syndrome
  • Frontonasal dysplasia
  • Galactosemia
  • Gastroschisis
  • Gaucher disease
  • Generalized arterial calcification of infancy
  • Glucose 6-phosphate dehydrogenase deficiency
  • Glycogen storage disease, type II
  • Goldenhar syndrome
  • Hallermann-Streiff syndrome
  • Harlequin ichthyosis (harlequin fetus)
  • Hemophilia A
  • Hereditary hemochromatosis
  • Hereditary multiple exostoses
  • Holoprosencephaly
  • Holt-Oram syndrome
  • Hydrops fetalis
  • Hyper-IgE syndrome
  • Hypochondroplasia
  • Hypoglossia-hypodactylia syndrome
  • Hypohidrotic ectodermal dysplasia
  • Hypomelanosis of Ito
  • Hypophosphatasia
  • Incontinentia pigmenti
  • Infantile myofibromatosis
  • Ivemark syndrome
  • Jarcho-Levin syndrome
  • Kabuki syndrome
  • Kasabach-Merritt syndrome
  • KID syndrome
  • Klinefelter syndrome
  • Klippel-Feil syndrome
  • Klippel-Trenaunay syndrome
  • Kniest dysplasia
  • Larsen syndrome
  • LEOPARD syndrome
  • Lesch-Nyhan syndrome
  • Lethal multiple pterygium syndrome
  • Lowe syndrome
  • Marfan syndrome
  • McCune-Albright syndrome
  • Meckel-Gruber syndrome
  • Menkes disease (Kinky-hair syndrome)
  • Metachromatic leukodystrophy
  • Miller-Dieker syndrome
  • Möbius syndrome
  • Mucolipidosis II (I-cell disease)
  • Mucolipidosis III (pseudo-Hurler polydystrophy)
  • Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes
  • Mucopolysaccharidosis II (Hunter syndrome)
  • Mucopolysaccharidosis III (Sanfilippo syndrome)
  • Mucopolysaccharidosis IV (Morquio syndrome)
  • Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
  • Multiple epiphyseal dysplasia
  • Multiple pterygium syndrome
  • Myotonic dystrophy type I
  • Netherton syndrome
  • Neu-Laxova syndrome
  • Neural tube defects
  • Neurofibromatosis I
  • Noonan syndrome
  • Oblique facial cleft syndrome
  • Oligohydramnios sequence
  • Omphalocele
  • Osteogenesis imperfecta
  • Osteopetrosis
  • Pachyonychia congenita
  • Pallister-Killian syndrome
  • Phenylketonuria (PKU)
  • Pierre Robin sequence
  • Polycystic kidney disease, autosomal dominant type
  • Polycystic kidney disease, autosomal recessive type
  • Prader-Willi syndrome
  • Progeria
  • Prune belly syndrome
  • Pseudoachondroplasia
  • R(18) syndrome
  • Retinoid embyopathy
  • Rett syndrome
  • Rickets
  • Roberts syndrome
  • Robinow syndrome
  • Rubinstein-Taybi syndrome
  • Schizencephaly
  • Schmid metaphyseal chondrodysplasia
  • Seckel syndrome
  • Severe combined immune deficiency
  • Short rib polydactyly sydromes
  • Sickle cell disease
  • Silver-Russell syndrome
  • Sirenomelia
  • Smith-Lemli-Opitz syndrome
  • Smith-Magenis syndrome
  • Sotos syndrome
  • Spinal muscular atrophy
  • Spondyloepiphyseal dysplasia
  • Stickler syndrome
  • Sturge-Weber syndrome
  • Tay-Sachs disease
  • Tetrasomy 9p syndrome
  • Thalassemia
  • Thanatophoric dysplasia
  • Thrombocytopenia-absent radius syndrome
  • Treacher-Collins syndrome
  • Trimethylaminuria
  • Triploidy
  • Trismus pseudocamptodactyly syndrome
  • Trisomy 13 syndrome
  • Trisomy 18 syndrome
  • Tuberous sclerosis
  • Turner syndrome
  • Twin-twin transfusion syndrome
  • Ulnar-mammary syndrome
  • VATER (VACTERL) Association
  • Von Hippel-Lindau disease
  • Waardenburg syndrome
  • Williams syndrome
  • Wolf-Hirschhorn syndrome
  • X-linked ichthyosis
  • XXX syndrome
  • XXXXX syndrome
  • XXXXY syndrome
  • XY female
  • XYY syndrome

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