#1
Which chromosomal abnormality is associated with Down syndrome?
Trisomy 21
ExplanationExtra copy of chromosome 21.
#2
What is the typical chromosomal makeup of individuals with Turner syndrome?
45,X
ExplanationMonosomy X, missing second sex chromosome.
#3
What is the main characteristic of cri du chat syndrome?
High-pitched cry
ExplanationDistinctive cry resembling a cat.
#4
Which chromosomal abnormality is associated with Edwards syndrome?
Trisomy 18
ExplanationExtra copy of chromosome 18.
#5
Which of the following disorders is caused by a deletion in chromosome 7?
Williams syndrome
ExplanationDevelopmental disorder with cardiovascular issues.
#6
What is the characteristic physical feature of individuals with Marfan syndrome?
Long limbs and fingers
ExplanationTall stature, elongated limbs.
#7
Which genetic disorder is caused by a mutation in the CFTR gene?
Cystic fibrosis
ExplanationDisorder affecting lungs and digestive system.
#8
What chromosomal abnormality is associated with Klinefelter syndrome?
47,XXY
ExplanationExtra X chromosome in males.
#9
What is the genetic basis of Duchenne muscular dystrophy?
X-linked recessive mutation
ExplanationInherited disorder affecting muscle.
#10
Which disorder is caused by an expansion of CGG repeats in the FMR1 gene?
Fragile X syndrome
ExplanationIntellectual disability and behavioral issues.
#11
Which chromosomal abnormality is associated with Patau syndrome?
Trisomy 13
ExplanationExtra copy of chromosome 13.
#12
What is the genetic basis of hemophilia?
X-linked recessive mutation
ExplanationBlood clotting disorder.
#13
Which disorder is characterized by a deletion in chromosome 15?
Cri du chat syndrome
ExplanationHigh-pitched cry, intellectual disability.
#14
What is the typical chromosomal makeup of individuals with Klinefelter syndrome?
47,XXY
ExplanationExtra X chromosome in males.
#15
Which genetic disorder is caused by a mutation in the HTT gene?
Huntington's disease
ExplanationNeurodegenerative disorder affecting movement.
#16
Which disorder is caused by a mutation in the FMR1 gene?
Fragile X syndrome
ExplanationIntellectual disability and behavioral issues.
#17
Which disorder is characterized by a trinucleotide repeat expansion in the HTT gene?
Huntington's disease
ExplanationProgressive neurodegenerative disorder.