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Atlas of Genetic Diagnosis and Counseling
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Main description:

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available.

Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use.

Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malform

ation syndromes and better evaluate, counsel, and manage affected patients.


Feature:

Completely revised and expanded new edition

Easy to use outline format

Extensive up-to-date literature review for each disorder

Written by an expert in the field of clinical genetics


Back cover:

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available.

Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use.

Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malformation syndrom

es and better evaluate, counsel, and manage affected patients.


Contents:

Acardia
Achondrogenesis
Achondroplasia
Adams-Oliver Syndrome
Agnathia
Aicardi Syndrome
Alagille Syndrome
Albinism
Alpha-Thalassemia X-linked Mental Retardation Syndrome
Ambiguous Genitalia
Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex
Androgen Insensitivity Syndrome
Angelman Syndrome
Apert Syndrome
Aplasia Cutis Congenita
Arthrogryposis Multiplex Congenita
Asphyxiating Thoracic Dystrophy
Ataxia-Telangiectasia
Atelosteogenesis
Autism
Bannayan-Riley-Ruvalcaba Syndrome
Beckwith-Wiedemann Syndrome
Behcet Disease
Biotinidase Deficiency
Bladder Exstrophy
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
Body Stalk Anomaly
Brachydactyly
Branchial Cleft Anomalies
Calcinosis Cutis
Campomelic Dysplasia
Carpenter Syndrome
Cat Eye Syndrome
Celiac Disease
Cerebral Palsy
Cerebro-Costo-Mandibular Syndrome
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Cherubism
Chiari Malformation
Chondrodysplasia Punctata
Chromosome Abnormalities in Pediatric Solid Tumors
Cleft Lip and/or Cleft Palate
Cleidocranial Dysplasia
Cloacal Exstrophy
Clubfoot
Collodion Baby
Congenital Adrenal Hyperplasia
Congenital Cutis Laxa
Congenital Cytomegalovirus Infection
Congenital Generalized Lipodystrophy
Congenital Hemihyperplasia
Congenital Hydrocephalus
Congenital Hypothyroidism
Congenital Muscular Dystrophy
Congenital Toxoplasmosis
Conjoined Twins
Corpus Callosum Agenesis/Dysgenesis
Craniometaphyseal Dysplasia
Cri-Du-Chat Syndrome
Crouzon Syndrome
Cutaneous Vasculitis
Cutis Marmorata Telangiectatica Congenita
Cystic Fibrosis
Dandy-Walker Malformation
De Lange Syndrome
Del(18p) Syndrome
Del(22q11.2) Syndrome
Del(Yq) Syndrome
Diabetic EmbryopathyDuncan Syndrome
Dyschondrosteosis
Dysmelia
Dysplasia Epiphysealis Hemimelica
Dystonia
Dystrophinopathies
Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome
Ehlers-Danlos Syndrome
Ellis-van Creveld Syndrome
Enchondromatosis
Epidermolysis Bullosa
Epidermolytic Palmoplantar Keratoderma
Faciogenital (Faciodigitogenital) Dysplasia
Facioscapulohumeral Muscular Dystrophy
Familial Adenomatous Polyposis
Familial Hyperlysinemia
Familial Mediterranean Fever
Familial Patella Instability
Familial Spastic Paraplegia
Fanconi Anemia
Feingold Syndrome
Femoral Hypoplasia - Unusual Facies Syndrome
Fetal Akinesia Deformation Sequence
Fetal Alcohol Spectrum Disorders
Fetal Hydantoin Syndrome
Fibrodysplasia Ossificans Progressiva
Fibular Hemimelia
Finlay-Marks Syndrome
Floppy Infant
Fragile X Syndrome
Fraser Syndrome
Freeman-Sheldon Syndrome
Friedreich Ataxia
Frontonasal Dysplasia
Galactosemia
Gastroschisis
Gaucher Disease
Generalized Arterial Calcification of Infancy
Genitopatellar Syndrome
Giant Congenital Melanocytic Nevi
Gilbert Syndrome
Glucose-6-Phosphate Dehydrogenase Deficiency
Glycogen Storage Disease, Type 2
Goldenhar Syndrome
Gorlin Syndrome
Greig Cephalopolysyndactyly Syndrome
Growth Hormone Deficiency
Hallermann-Streiff Syndrome
Harlequin Ichthyosis
Hemangiomas of Infancy
Hemophilia A
Hereditary Hearing Loss
Hereditary Hemochromatosis
Hereditary Multiple Exostoses
Hereditary Sensory and Autonomic Neuropathies
Herlyn-Werner-Wunderlich Syndrome
Holoprosencephaly
Holt-Oram Syndrome
Huntington Disease
Hydranencephaly
Hydrolethalus Syndrome
Hydrops Fetalis
Hyper-IgE Syndrome
Hypertrophic Cardiomyopathy (HCM)
Hypochondroplasia
Hypoglossia-Hypodactylia Syndrome
Hypohidrotic Ectodermal Dysplasia
Hypomelanosis of Ito
Hypophosphatasia
Hypopituitarism
I(1p), I(1q) Syndrome
Idic(Yq) Syndrome
Incontinentia Pigmenti
Infantile Myofibromatosis
Ivemark Syndrome
Jarcho-Levin Syndrome
Joubert 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
Loeys-Dietz Syndrome
Lowe Syndrome
Lymphangiomas and Lymphangiomatosis
Möbius Syndrome
Macrodactyly
Marfan Syndrome
McCune-Albright Syndrome
Meckel-Gruber Syndrome
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Menkes Disease
Metachromatic Leukodystrophy
Miller-Dieker Syndrome
Mitochondrial Leber Hereditary Optic Neuropathy
Mitochondrial Myopathy
Mowat-Wilson Syndrome
Mucolipidosis 2
Mucolipidosis 3
Mucopolysaccharidosis 1 (MPS 1)
Mucopolysaccharidosis 2
Mucopolysaccharidosis 3
Mucopolysaccharidosis 4
Mucopolysaccharidosis 6
Multiple Endocrine Neoplasia Syndromes
Multiple Epiphyseal Dysplasia
Multiple Pterygium Syndrome
Myotonic Dystrophy Type 1
Nager Acrofacial Dysostosis
Nail-Patella Syndrome
Nasal Obstruction in Neonates and Children
Neonatal Herpes Simplex Infection
Nephrogenic Diabetes Insipidus
Netherton Syndrome
Neu-Laxova Syndrome
Neural Tube Defects
Neurofibromatosis 1
Neurofibromatosis 2
Niemann-Pick Disease
Noonan Syndrome
Oblique Facial Cleft Syndrome
Oligohydramnios Sequence
Omphalocele
Opitz Trigonocephaly (C) Syndrome
Oral-Facial-Digital Syndrome
Osteogenesis Imperfecta
Osteogenesis Imperfecta Ehlers-Danlos Overlap Syndrome
Osteopetrosis
Osteopoikilosis
Otopalatodigital Spectrum Disorders
Pachyonychia Congenita
Pallister-Killian Syndrome
Peutz-Jeghers Syndrome
Phenylketonuria
Pierre Robin Sequence
Polycystic Kidney Disease, Autosomal Dominant Type
Polycystic Kidney Disease: Autosomal Recessive Type
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Primary Microcephaly
Progeria
Prune Belly Syndrome
Pseudoachondroplasia
R(18) Syndrome
Radioulnar Synostosis
Retinoid Embryopathy
Rett Syndrome
Rickets
Rigid Spine Syndrome
Roberts Syndrome
Robinow Syndrome
Rubinstein-Taybi Syndrome
Saethre-Chotzen Syndrome
Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis
Schizencephaly
Schmid Metaphyseal Chondrodysplasia
Seckel Syndrome
Severe Combined Immune Deficiency
Short Rib-Polydactyly Syndromes
Sickle Cell Disease
Silver-Russell Syndrome
Sirenomelia
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Spinal Muscular Atrophy
Spondyloepiphyseal Dysplasia
Stickler Syndrome
Sturge-Webber Syndrome
Symphalangism
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
Trisomy 8 Mosaicism Syndrome
Tuberous Sclerosis
Turner Syndrome
Twin-Twin Transfusion Syndrome
Tyrosinemia
Ulnar-Mammary Syndrome
Urofacial Syndrome
VATER (VACTERL) Association
Von Hippel-Lindau Disease
Waardenburg Syndrome
Weill-Marchesani Syndrome
Williams Syndrome
Winchester syndrome
Wolf-Hirschhorn Syndrome
X-Linked AgammaglobulinemiaX-Linked Ichthyosis
XX Male
XXX Syndrome
XXXXX Syndrome
XXXXY Syndrome
XY Female
XYY Syndrome


PRODUCT DETAILS

ISBN-13: 9781493924028
Publisher: Springer (Springer New York)
Publication date: October, 2017
Pages: 3000
Availability: Not yet available
Subcategories: Neurology, Paediatrics and Neonatal, Pathology

MEET THE AUTHOR

Harold Chen, MD
LSU Health Sciences Center, Department of Pediatrics Medicine, Shreveport, LA, USA

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