16517405
Description
Flashcards by Med Student , updated more than 1 year ago
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Created by Med Student
almost 6 years ago
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| Question | Answer |
| Autosomal Dominant Characteristics Males and female equally affected Disorder s transmitted by both sexes Successive generations affected Male to male transmission occurs Examples Achondroplasia Huntington Chorea Myotonic Dystrophy Neurofibromatosis Osteogenesis imperfecta | |
| Autosomal Recessive Characteristics Males and females equally affected Both parents are unaffected carriers 2 out of 3 unaffected siblings are carriers Increased incidence of parental consanguinity in rare disorders Examples Congenital Adrenal Hyperplasia Cystic fibrosis Phenylketonuria Sickle cell disease Thalassaemia | |
| X linked Recessive Inheritance Characteristics Males affected almost exclusively Transmission through carrier females Male to male transmission does not occur All daughters of affected males are carriers Examples Duchenne Muscular Dystrophy Glucose-6-phosphate Dehydrogenase Deficiency Hemophilia A Moris Syndrome Wiskott Aldrich Syndrome | |
| X Linked Dominant Inheritance Characteristics: The transmission of the trait continues from generation to generation without skipping Every affected child has affected parents Affected males have no normal daughters and no affected sons Affected heterozygous females transmit the condition to half their children of either sex. Affected homozygous females females transmit to all their children More affected females but usually heterozygous Examples Vitamin D resistant Rickets Rett Syndrome Incontinetia Pigmenti Goltz Syndrome FMR1 Related Disorders | |
| Y Linked Inheritance (Holandric) Characteristics No females affected Male to male transmission, every generation No Male to female transmission Examples Y chromosome infertility Azoospermia Abnormal or Absent Testicular Development Retinitis Pigmentosa | |
| Mitochondrial Inheritance Classification: All children of affected males will not inherit the disease All children of affected females will inherit it There are no carriers Examples: Leber Heredittary Optic Neuropathy (LHON) Myoclonic epilepsy and ragged red fiber disease (MERRF) Kearns-Sayre Syndrome (KSS) |
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