Atlas of Genetic Diagnosis and Counseling

3rd Auflage 2017
ISBN: 978-1-4939-2402-8
Verlag: Springer

Buch, Englisch, 3080 Seiten, Buch mit Online-Zugang, Format (B × H): 155 mm x 235 mm

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.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Chen, Harold

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Medizinische Fachgebiete Pathologie, Cytopathologie, Histopathologie

Inhaltsverzeichnis

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 Embryopathy

Über Autor(innen)

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