What are Genetic Disorders Involving Sex Chromosomes?
Genetic disorders involving sex chromosomes include: Klinefelter syndromeTurner syndromeHermaphroditismPseudohermaphroditism
What is 22q11.2 Deletion Syndrome?
22q11.2 deletion syndrome is a syndrome caused by a microdeletion on the long arm of chromosome 22 resulting in abnormal development of several body systems. What is the Pathology of 22q11.2 Deletion Syndrome? The pathology of 22q11.2 deletion syndrome is:…
What are Complex Multigenic Disorders?
Complex multigenic disorders include: Normal karyotypeStructural abnormalities of chromosomesChromosomal disordersTrisomiesTrisome 21Trisomy 18Trisomy 13Trisomy 22 DiseaseClinical FeaturesDown syndrome (trisomy 21)Intellectual disability, prominent epicanthal folds, single palmar crease, flat facies, incurved 5th finger, gap between 1st 2 toes, duodenal atresia, Hirschsprung disease,…
What are Disorders Associated with Defects in Proteins that Regulate Cell Growth?
Disorders associated with defects in proteins that regulate cell growth include the following: DiseasesInheritanceFeaturesTay-SachsRecessiveNeurodegeneration, developmental delay, hyperreflexia, hyperacusis, “cherry-red” spot on macula A, lysosomes with onion skin.Familial hypercholesterolemiaDominantXanthelasma palpebrarum, tendon xanthoma, advanced atherosclerosis.Sickle cell anemiaRecessiveExtravascular and intravascular hemolysis cause anemia.Duchenne…
What are Glycogen Storage Diseases?
Glycogen storage diseases are group of diseases resulting in abnormal glycogen metabolism and an accumulation of glycogen within cells. Examples of glycogen storage disease include: Types I, II, III, IV, and V. TypesAffected tissueEnzyme defectClinical featuresTissue needed for diagnosis*OutcomeVon Gierke…
What are Lysosomal Storage Diseases?
Lysosomal storage diseases are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Examples of lysosomal storage diseases include: GlycoogenosisSulfatidosesMucopolysaccharidosesMucopolysaccharidosesMucolipidosesFucosidosisMannosidosisAspartglycosaminuriaWolman diseaseAcid phosphate deficiency DiseaseEnzyme DeficiencyMajor Accumulation MetabolitesGlycogenosisType 2 – Pompe disease Α-1,4-Glucosidase (lysosomal…
What is Familial Hypercholesterolemia?
Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levelswhich include very high levels of low-density lipoprotein in the blood and early cardiovascular disease. What is the Pathology of Familial Hypercholesterolemia? The pathology of familial hypercholesterolemia is: -Etiology: The…
What are Disorders Associated with Defects in Receptor Proteins?
Disorders associated with defects in receptor proteins are structural abnormalities of receptor proteins, that altered their function of receiving and transducing signals. An example is familial hypercholesterolemia.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome is a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. What is the Pathology of Ehlers-Danlos Syndrome? The pathology of Ehlers-Danlos syndrome is: -Etiology: The cause of Ehlers-Danlos syndrome…
What is Marfan Syndrome?
Marfan syndrome is an autosomal dominant connective tissue disorder due to defective fibrillin. What is the Pathology of Marfan Syndrome? The pathology of Marfan syndrome is: -Etiology: The cause of Marfan syndrome is FBN1 gene mutation on chromosome 15. -Genes…