Chromosomal Abnormalities and Genetic Disorders Quiz

Test your knowledge of chromosomal abnormalities and genetic disorders with this Cytogenetics quiz. Explore questions on Down syndrome, Turner syndrome, CFTR gene mutations, and more.

#1

Which chromosomal abnormality is associated with Down syndrome?

Trisomy 21
Monosomy X
Trisomy 18
Turner syndrome
#2

What is the typical chromosomal makeup of individuals with Turner syndrome?

45,X
47,XXY
47,XX,+21
46,XX
#3

What is the main characteristic of cri du chat syndrome?

Intellectual disability
Microcephaly
High-pitched cry
Polydactyly
#4

Which chromosomal abnormality is associated with Edwards syndrome?

Trisomy 21
Monosomy X
Trisomy 18
Turner syndrome
#5

Which of the following disorders is caused by a deletion in chromosome 7?

Prader-Willi syndrome
Williams syndrome
Cystic fibrosis
Fragile X syndrome
#6

What is the characteristic physical feature of individuals with Marfan syndrome?

Short stature
Long limbs and fingers
Curly hair
Large birthmark
#7

Which genetic disorder is caused by a mutation in the CFTR gene?

Cystic fibrosis
Huntington's disease
Sickle cell anemia
Down syndrome
#8

What chromosomal abnormality is associated with Klinefelter syndrome?

47,XXY
45,X
Trisomy 18
Trisomy 21
#9

What is the genetic basis of Duchenne muscular dystrophy?

X-linked recessive mutation
Autosomal dominant mutation
Autosomal recessive mutation
Y-linked mutation
#10

Which disorder is caused by an expansion of CGG repeats in the FMR1 gene?

Prader-Willi syndrome
Cri du chat syndrome
Angelman syndrome
Fragile X syndrome
#11

Which chromosomal abnormality is associated with Patau syndrome?

Trisomy 21
Monosomy X
Trisomy 18
Trisomy 13
#12

What is the genetic basis of hemophilia?

X-linked recessive mutation
Autosomal dominant mutation
Autosomal recessive mutation
Y-linked mutation
#13

Which disorder is characterized by a deletion in chromosome 15?

Prader-Willi syndrome
Cri du chat syndrome
Angelman syndrome
Fragile X syndrome
#14

What is the typical chromosomal makeup of individuals with Klinefelter syndrome?

45,X
47,XXY
47,XX,+21
46,XX
#15

Which genetic disorder is caused by a mutation in the HTT gene?

Cystic fibrosis
Huntington's disease
Sickle cell anemia
Down syndrome
#16

Which disorder is caused by a mutation in the FMR1 gene?

Prader-Willi syndrome
Williams syndrome
Angelman syndrome
Fragile X syndrome
#17

Which disorder is characterized by a trinucleotide repeat expansion in the HTT gene?

Prader-Willi syndrome
Cri du chat syndrome
Huntington's disease
Fragile X syndrome

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