PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
A genetic disorder involving an abnormality in the X chromosome, which becomes constricted and often breaks.
A
X chromosome disease
B
Tay-sachs disease
C
Huntington’s Disease
D
Color blindness
E
Fragile X
Explanation: 

Detailed explanation-1: -Fragile X syndrome (FXS) is a genetic disorder. FXS is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1). FMR1 usually makes a protein called FMRP that is needed for brain development. People who have FXS do not make this protein.

Detailed explanation-2: -The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability.

Detailed explanation-3: -Fragile X syndrome is a genetic disorder caused by a change to one of the genes on the X chromosome. It is the most common inherited cause of intellectual disability. Fragile X syndrome is also linked to features of autism spectrum disorder.

Detailed explanation-4: -There are several X-linked (or sex-linked) recessive genetic disorders, (hemophilia, muscular dystrophy) which are inherited through a genetic defect on an X chromosome.

Detailed explanation-5: -Fragile X syndrome (FXS), also called Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited cause of mild to severe intellectual disability and the most common monogenic cause of autism spectrum disorder (ASD).

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