Chromosomal diseases

Give an example of a chromosomal abnormality

• phenylketonuria

• albinism

• Marfan syndrome

• Patau syndrome

What changes in karyotype observed in Down syndrome?

• trisomy 13

• trisomy 18

• trisomy 21

• trisomy X chromosome

Identify the formula of the karyotype in Cri du chat syndrome:

• 46,XX, 5p-

• 47,XX, 18+

• 47,XY, 13+

• 47, XXY

Determine chromosomal diseases that are caused by a change in the number of autosomes:

•  

  Edwards syndrome

• Turner syndrome

• Klinefelter syndrome

• Cri du chat syndrome

Give an example of a chromosomal abnormality

•   Wolf–Hirschhorn syndrome

• Tay–Sachs disease

• Mucopolysaccharidoses

• Sickle cell disease

What changes in karyotype observed in Patau syndrome?

• trisomy 13

• trisomy 18

• trisomy X chromosome

• trisomy 21

Identify the formula of the karyotype in Turner syndrome:

• 46,XX, 5p-

• 47,XX, 18+

• 45, XO

• 47, XXY

  Identify chromosomal disease which are associated with an increase in the number of sex chromosomes:

• Cri du chat syndrome

• Klinefelter syndrome

• Edwards syndrome

• Turner syndrome

    What syndrome are characterized by the following symptoms: microcephaly, sloping forehead, narrow eye slits, nose defect, low-set ears and deformed, cleft lip and cleft palate, polydactyly (extra digits), heart defects, kidney defects?

• Patau syndrome

• Down syndrome

• Marfan syndrome

• Turner syndrome

Determine the possible karyotype formula according to the following features: short stature, short neck, barrel-shaped chest, delayed sexual development.

• 46,XX, 5p-

• 47,XX, 18+

• 45, XO

• 47,XX, 21+