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36 Cards in this Set
- Front
- Back
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Genetic causes of Down Syndrome
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Triploidy 21 or Translocation (resulting in 3 copies of chr 21)
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Genetic cause of Cri du chat Syndrome
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Deletion (5p-)
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Major complications of Down Syndrome
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Congenital heart disease (especially endocardial cushion defects, atrial & ventricular septal defects, acute leukemia, increased susceptibility to infection, brain changes similar to Alzheimer's
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What is Cri du chat?
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Severe mental retardation, microcephaly, catlike cry, low birth weight, round face, hypertelorism, low-set ears, epicanthal folds
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Genetic cause of DiGeorge Syndrome
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Microdeletion of 22q11
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What is DiGeorge Syndrome?
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CATCH 22 - Cardiac abnormalities, abnormal facies, T-cell deficit b/c of athymia, cleft palate, hypocalcemia (d/t hypoPTH) & microdeletion 22q11
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Genetic cause of Edwards Syndrome
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Trisomy 18 (from nondysjunction)
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What is Edwards Sydrome?
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Mental retardation, prominent occiput, micrognathia (small lower jaw), low-set ears, rocker-bottom feet, flexion deformities of the fingers, congenital heart diseas
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Genetic cause of Patau Syndrome
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Trisomy 13
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What is Patau Syndrome?
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Mental retardation, microcephaly, microphthalamia (small eyes), brain abnormalities, cleft palate & lip, polydactyly, rocker-bottom feet, congenital heart disease
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What is the MC genetic cause of mental retardation?
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Down Syndrome
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What is the 2nd MC genetic cause of mental retardation?
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Fragile X Syndrome
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Genetic basis of Fragile X Syndrome
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Increased # of trinucleotide repeats (CGG tandem repeats)
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What is Fragile X Syndrome?
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Mental retardation, macroorchidism (enlarged testes)
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Genetic Basis of Prader-Willi Syndrome
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Paternal methylation of del(15)(q11q13)
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What is Prader-Willi Syndrome?
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Hypogonadism, hypotonia, mental retardation, behavior problems, uncontrolled apetite (obesity & DM)
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Genetic Basis of Angelman Syndrome
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Maternal methylation of del(15)(q11q13)
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What is Angelman Syndrome?
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"Happy Puppet Syndrome", marked by mental retardation, ataxia, seizures, inappropriate laughter
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Genetic Basis of Adult Polycystic Kidney Disease
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Autosomal Dominant
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Genetic Basis of Familial Hypercholesterolemia
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Autosomal Dominant
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Genetic Basis of Osler-Weber-Rendu Syndrome
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Autosomal Dominant
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What is Osler-Weber-Rendu Syndrome?
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AKA Hereditary Hemorrhagic Telangiectasia; localized telangectasias of skin & mucous membranes & recurrent hemorrhage (seen in Mormon of Utah)
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Genetic basis of Hereditary Spherocytosis
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Autosomal Dominant
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Genetic basis of Marfan Syndrome
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Autosomal Dominant
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Genetic basis of Neurofibromatosis type I
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Autosomal Dominant
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What is Neurofibromatosis type I?
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AKA von Recklinghausen Disease; Sx include multiple neurofibromas, café au lait spots, pigemented iris hamartomas (Lisch nodules), increased skeletal disorders
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Genetic basis of Tuberous Sclerosis
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Autosomal Dominant
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What is Tuberous Sclerosis?
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Presence of glial nodules & distorted neurons in the cerebral cortex, seizures, mental retardation, adenoma sebaceum (facial skin lesion consisting of malfomred blood vessels & connective tissue), rhabdomyomas of the heart, renal angiomyolipomas
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Genetic basis of von Hipple-Lindau Disease?
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Autosomal Dominant
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What is von Hipple-Lindau Disease?
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Hemangioblastoma or cavernous hemangioma of cerebellum, brain stem or retina; adenomas; cysts of liver, kidney, pancreas & other organs; increased incidence of renal cell carcinoma
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Genetic basis of Cystic Fibrosis
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Autosomal Recessive
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Mechanism of Cystic Fibrosis
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Defect in genetic code for chloride transport protein
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What is Cystic Fibrosis?
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MC lethal genetic disease among whites; malfunction of exocrine glands, increased viscosity of mucous, increased chloride concentration in sweat & tears; Clinical manifestations include chronic pulmonary disease, pancreatic insufficiency, meconium ileus; Dx by sweat test
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What is a common cause of death in cystic fibrosis?
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Infection by Psuedomonas aeruginosa
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What protective effect is seen with Tay-Sachs disease?
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Protective vs TB
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What protective effect is seen with cystic fibrosis?
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Protective vs cholera
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