Genetic Disorders

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Can you name the Genetic Disorders?

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CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Deletion or inactivation of normally active maternal allele on chromosome 15MR, seizures, ataxia, inappropriate laughter
Methylation and expression of FMR1 affected by deletion or trinucleotide repeatMacro-orchidism, large jaw, large ears(XD)
Fibrillin gene mutationTall with long extremities,pectus excavatum(AD)
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)
Absense or dysfunction of lysosomal enzyme alpha-galactisidase APeripheral neuropathy, angiokeratomas(XR)
Deficiency in lysosomal enzyme Hexosaminidase AProgressive neurodegeneration, devel. delay, red spot on macula(AR)
Germline mutation of p53 tumor suppressor geneIncrease susceptibility to cancer(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
Absence of galactose-1-phosphate uridyltransferaseInability to metabolize galactose(AR)
CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Mutation in DMD gene coding for dystrophinGower's sign, large calves(XR)
Mutation in FGFR3 gene causing abnormal cartilage formationDwarfism, short limbs(AD)
Trisomy 21MR, flat facies
Trinucleotide expansion in 3' UTR of DMPKOnset early adulthood, myotonia(AD)
Deficiency in PAH or THBReduced metabolism of phenylalanine leading to MR
Long repeats in FRDA gene results in dimished frataxin and impairment in mitochondrial functioningStaggering gait, weakness(AR)
Microdeletion at chromosome 22q11Variable presentation, CATCH(AD)
Deficiency in lysosomal enzyme beta-glucocerebrosidaseHepatospenomegaly, Gaucher's cells(AR)
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)

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