Science Quiz / Genetic Disorders

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Can you name the Genetic Disorders?

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CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Microdeletion at chromosome 22q11Variable presentation, CATCH(AD)
Deletion or inactivation of normally active paternal allele on chromosome 15MR, hypotonia, obesity, hypogonadism
Mutations in genes involved with collagenHyperextensible skin, easy bruising, hypermobile joints(most AD)
Deficiency in BCKD leading to builup of branched chain A.A.sSweet smelling urine, infants healthy at birth but have sever brain damage if untreated
Deficiency in lysosomal enzyme Hexosaminidase AProgressive neurodegeneration, devel. delay, red spot on macula(AR)
Deficiency in lysosomal enzyme beta-glucocerebrosidaseHepatospenomegaly, Gaucher's cells(AR)
Trinucleotide expansion in 3' UTR of DMPKOnset early adulthood, myotonia(AD)
Mutation in FGFR3 gene causing abnormal cartilage formationDwarfism, short limbs(AD)
Fibrillin gene mutationTall with long extremities,pectus excavatum(AD)
Long repeats in FRDA gene results in dimished frataxin and impairment in mitochondrial functioningStaggering gait, weakness(AR)
CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Absense or dysfunction of lysosomal enzyme alpha-galactisidase APeripheral neuropathy, angiokeratomas(XR)
Trisomy 21MR, flat facies
Mutation in DMD gene coding for dystrophinGower's sign, large calves(XR)
Deletion or inactivation of normally active maternal allele on chromosome 15MR, seizures, ataxia, inappropriate laughter
Deficiency in PAH or THBReduced metabolism of phenylalanine leading to MR
Germline mutation of p53 tumor suppressor geneIncrease susceptibility to cancer(AD)
Absence of galactose-1-phosphate uridyltransferaseInability to metabolize galactose(AR)
Methylation and expression of FMR1 affected by deletion or trinucleotide repeatMacro-orchidism, large jaw, large ears(XD)
Defect in CFTR gene leading to abnormal CFTR channelExcess mucus production, coughing, frequent pulmonary infections(AR)
Trinucleotide expansion in exon of HTT gene leading to altered proteinChorea, preceded by personality change, present ~40 yoa(AD)

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