Science Quiz / Genetic Etiology

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Can you name the Genetic Etiology?

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Microdeletion of short arm of chromosome 5
Chromosome 22q11.2 Deletion Syndrome
47, XXY; Secondary to nondisjunction in parent
Trisomy 13 Secondary to nondisjunction in the parent
Trisomy 18 Secondary to nondisjunction in parent
Trisomy 21 Nondisjunction, robersonian
45, XO secondary to nondisjunction in parent
Microdeletion of long arm of 7, includes elastin gene
Deficiency in maternally inherited UBE3A of chromosome 15
Abnormal regulation of transcription in imprinted domain on chromosome 11p15.5
Deficiency in Paternal Inherited genes in specific region of chromosome 15
CGG trinucleotide repeat in fmr1 gene cause abnormal methylation and loss of function
CAG trinucleotide repear in exon 1 of HTT gene on chromosome 4
Mutation in mitochondria DNA gene MT-TL1 encoding tRNA for leucine
CTG trinucleotide repeat in non-coding region of DMPK
mutation in galactosa 1 po4 uridyltransferase that impairs activity
mutation in gla, which encodes alpha galactosidase A
mutation in glucocerebrosidase B
mutation in CBS, cystathionine beta syntase
mutatiion in BCKDHA, BCKDHB, or DBT which are involved in the degradation of leucine, isoleucine, and valine
Mutation in the acadm gene,
mutation in MUT
Mutation in OTC, most common urea cycle defect
Mutation in PAH or BH4 cofactor,
Mutation in FGFR3, causing failure of longitudinal bone growth
mutation in pkd1 and pkd2
mutation in seripina1, causing uninhibited elastase
in-frame mutation in DND
HintAnswer
mutation in CFTR
out of frame mutation in dmd
mutations in ldlr
mutation in factor viii
mutation in factor XI
Mutation in FBN1
mutation of HBB
mutation in NF1
mutation in NF2
mutation in ATM leading to DNA double stranded breaks
Mutation in BLM which affects helicase and causes genetic instability
Mutation in APC on 5q, which is a tumor supressor
mutation in BRCA1/2
mutation in the CDKN2a encoding p16 which normally inhibits CDk46 and prevents rb phosphorylation
mutation in WT1/WT2
Mutation in FA genes which are important for repairing crosslinked DNA
Mutation in TP53
mutation in mismatch repair gene leading to genetic instability
mutation in ret
mutation in Rb
mutation in VHL on chromosome 3 causes expression of HIF
mutation in nucleotide excision repair gene that leads to inability to repair uv light mediated genetic damage
mutation in CPT1A gene causes enzyme deficiency
deficiency in alpha-L-iduronidase, build up of GAGs (heparan and dermatan sulfates)
deficiency in iduronate 2 sulfatase leads to GAG accumulation
deficiency in acid sphingomyelinase, leads to accumulation of sphingomyelin in lysosomes
mutation MECP2 (binds methylated CpGs)
mutation in Na or K ion channels

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