Mutation Lysosomal Hexosaminidase Sphingomyelinase Glucocerebrosidase Chromosome Chromosome 15 Chromosome 11 Chromosome 1 Accumulation of GM2 Problem Accumulation of Sphingomyelin Accumulation of Cerebrosides Gangliosides Adulthood Ashkenazi Jews Severe Mild RES Ballooned Cytoplasmic Infantile Form Clinical Adulthood NO CNS Vacuoles RES Features RES Must BIOPSY to differentiate from Cherry Spot on Macula CNS NO CNS NP-Type 2 Developmental Delay Hepatosplenomegaly Crumpled Tissue Paper RES Involvement: Extras Lipid Laden Foamy Macrophages Fragile X: Triplet Repeat Disorder FMR1 Gene Mental Retardation, Macro-Orchidism May have sister that has milder symptoms. – – – Created by Brittni McClellan Trisomy 13 Trisomy 18 Trisomy 21 Type Patau Syndrome Edward’s Syndrome Down’s Syndrome within 6 Months Death within 1 Year Lives to Adulthood Clinical Cleft Lip/Palate Micrognathia + Prominent Occiput Most Commmon Features Rocker Bottom Feet Rocker Bottom Feet NJD in Maternal Meiosis 1 (Anaphase) Mental Retardation Mental Retardation Single Palmer Crease
Mutation Lysosomal Hexosaminidase Sphingomyelinase Glucocerebrosidase Chromosome Chromosome 15 Chromosome 11 Chromosome 1 Problem Accumulation of GM2 Gangliosides Accumulation of Sphingomyelin Accumulation of Cerebrosides Clinical Features Ashkenazi Jews Ballooned Cytoplasmic Vacuoles Cherry Spot on Macula Developmental Delay Severe Infantile Form RES CNS Hepatosplenomegaly Mild Adulthood RES NO CNS Adulthood RES NO CNS Must BIOPSY to differentiate from NP-Type 2 Crumpled Tissue Paper Extras RES Involvement: Lipid Laden Foamy Macrophages Fragile X: Triplet Repeat Disorder – FMR1 Gene – Mental Retardation, Macro-Orchidism – May have sister that has milder symptoms. Created by Brittni McClellan Trisomy 13 Trisomy 18 Trisomy 21 Type Patau Syndrome Edward’s Syndrome Down’s Syndrome Clinical Features within 6 Months Cleft Lip/Palate Rocker Bottom Feet Mental Retardation Death within 1 Year Micrognathia + Prominent Occiput Rocker Bottom Feet Mental Retardation Lives to Adulthood Most Commmon NJD in Maternal Meiosis 1 (Anaphase) Single Palmer Crease
pathology-1-block-2-genetic-disorder-charts.docx