Chapter # 4 – Genetic and Pediatric Diseases

KEY CONCEPT CONCEPTUAL EXAMPLES Diseases Caused by Alterations of Imprinted Regions: Prader-Willi and Angelman Syndromes KEY … Diseases Caused by Mutations in Mitochondrial Genes – Self Learning series # 12, Page # 107, Ch# 4Read more

Triplet Repeat Mutations Fragile X Syndrome (FXS) KEY CONCEPT CONCEPTUAL EXAMPLES FIG. 4.21 — FRAGILE X … SINGLE-GENE DISORDERS WITH ATYPICAL PATTERNS OF INHERITANCE – Self Learning series # 11, Page # 105, Ch# 4Read more

Clinical Features Pathogenesis KEY CONCEPT CONCEPTUAL EXAMPLES

Clinical Features KEY CONCEPT CONCEPTUAL EXAMPLES

KEY CONCEPT CONCEPTUAL EXAMPLES CYTOGENETIC DISORDERS KEY CONCEPT CONCEPTUAL EXAMPLES Numeric Abnormalities KEY CONCEPT CONCEPTUAL EXAMPLES … COMPLEX MULTIGENIC DISORDERS – Self Learning series # 8, P # 97, Ch# 4Read more

Hepatic type Myopathic type Type II Glycogenosis (Pompe Disease) KEY CONCEPT CONCEPTUAL EXAMPLES FIG. 4.16 — … Glycogen Storage Diseases (Glycogenoses) – Self Learning series # 7, P # 96, Ch# 4Read more

KEY CONCEPT CONCEPTUAL EXAMPLE Gaucher Disease KEY CONCEPT CONCEPTUAL EXAMPLES Mucopolysaccharidoses KEY CONCEPT CONCEPTUAL EXAMPLES

KEY CONCEPT CONCEPTUAL EXAMPLES Pathogenesis Niemann-Pick Disease Types A and B Sphingomyelin → ceramide + phosphorylcholine … Tay-Sachs Disease (GM2 Gangliosidosis: Hexosaminidase A α-Subunit Deficiency) – Self Learning series # 6, P # 95, Ch# 4Read more

KEY CONCEPT CONCEPTUAL EXAMPLES Lysosomal Storage Diseases KEY CONCEPT CONCEPTUAL EXAMPLES FIG. 4.12 — LYSOSOMAL STORAGE … Galactosemia – Lysosomal Storage Diseases – Self Learning Series # 5, P # 93, Ch# 4Read more

Pathogenesis KEY CONCEPT CONCEPTUAL EXAMPLES FIG. 4.7 — CYSTIC FIBROSIS: SWEAT DUCT vs AIRWAY 🧠 Simplest … Cystic Fibrosis -Self Learning Series # 4, P # 89, Ch # 4Read more