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

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