Pediatric Medical Genetics - S.I. Smiian 2003



Introduction

General Principles of Medical Genetics

The Significance of Medical Genetics

Historical Background

Subject and Tasks of Medical Genetics

Fundamentals of Inheritance and Hereditary Pathology

Methods of Medical Genetics

Medical Genetic Counseling

Blood Group Genetics

Chromosomal diseases

General remarks

Human chromosomes

Chromosomal diseases

Klinefelter syndrome

Chromosomal disorders

Turner syndrome

Chromosomal diseases

Triple-X syndrome

Autosomal anomalies

Chromosomal Diseases

Trisomy-D Syndrome

Chromosomal diseases

Patau syndrome

Trisomy-E syndrome

Primary immunodeficiencies

Primary Immunodeficiencies

Humoral Immunity Deficiency

Dysgammaglobulinemias

T-Cell System Deficiency

Combined Immunodeficiency States

Treatment of Hereditary IDs

Congenital heart defects

Congenital malformations and inherited diseases of the bronchopulmonary system in children

Congenital malformations and hereditary diseases of the bronchopulmonary system in children

Congenital malformations of the lungs

Congenital malformations and inherited disorders of the bronchopulmonary system in children

Malformations of the tracheal and bronchial walls

Congenital malformations and hereditary diseases of the bronchopulmonary system in children

Most common malformations of the tracheobronchial system

Hereditary pulmonary diseases

Inborn errors of metabolism (enzymopathies)

Hereditary blood disorders

Hereditary nephropathies

Hereditary Nephropathies

Semiotics of congenital and hereditary renal diseases

Hereditary nephropathies

Tubulopathies

Hereditary Nephropathies

Phosphate Diabetes

De Toni-Debré-Fanconi Syndrome

Renal Tubular Acidosis (Lightwood-Butler-Albright Syndrome)

Medullary Cystic Disease (Fanconi Nephronophthisis)

Glossary of Terms

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