Genetic Diseases Flashcards
Achondroplasia
Autosomal Dominant
FGF receptor 3 mutation = Dwarfism
Associated with paternal age
Familial adenomatous polyposis
Autosomal Dominant
Colon becomes covered with adnomatous polyps after puberty.
Chromosome 5 – APC gene
Tx = resect colon
Huntingtons
Autosomal Dominant
Chromosome 4 mutation ( CAG )
Findings : Depression, progressive dementia, choriform movements, decrease GABA and ACH
Hereditary Spherocytosis
Autosomal Dominant
Spheroid RBC’s = spectrin or ankyrin defect
increase MCHC
splenectomy is curative
Neurofirbromatosis Type I
Autosomal Dominant
Findings : Cafe-au-lait, neural tomros, lisch nodules
Chromosome 17
Neurofibromatosis Type II
Autosomal Dominant
Bilateral acoustic schwannoma
Chromosome 22
Autosomal Recessive
Albinism, cystic fibrosis, glycogen storage disease, hemochromatosis, thalassemia, sickle cell
Cystic Fibrosis
Autosomal Recessive defect in CFTR gene chromosome 7
G551D ( IVACAFTOR = treatment )
Defective Cl- channel secretes abnormally thick mucus plus = recurrent pulmonary infections
mutation = abnormal protein folding before the channel can be placed.
Fat soluble vitamin deficency ( ADEK (
increase [Cl-] in the sweat = diagnostic
Treatment = N - acetylcysteine to loosen mucous plugs.
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Down syndrome
Trisomy 21
Mental retardation, flat facies, increase risk of ALL and Alzhimer
Edwards syndrome
Trisomy 18
severe mental retardation and low set ears
Patau’s syndrom
Trisomy 13
cleft lip/ cleft palate
holoprosencephaly
polydactyly
Robertsonian translocation
nonreciprocal chromosomal translocation
long arms of 2 acrocentric chromosomes fuse at the centromere and the 2 short arms are lost
Downs Patau’s
Cri-du-Chat
congenital microdeletion of short arm of 5
Cry of the cat
high pitched crying / mewing
cardiac abnormalities
22q11
DiGeorge Syndrome
CATCH 22 Cleft Palate Abnormal facies Thymic aplasia ( T cell deficency ) Cardiac Defects Hypocalcemia
