Chromosomal & Genetic Disorders

1.Klinefelter syndrome

2.What is the chromosomal abnormality in Down syndrome

3.Turner’s syndrome

4.Barr body

5.Turner syndrome – aetiology and manifestations

6.Downs syndrome

7.List two lysosomal disorders

8.Mention four inherited disorders

9.Name four autosomal dominant diseases

10.Balanced translocation

1.Morphologic features in Trisomy 21

2.Turners syndrome

1.Name the condition of Male hypogonadism that occurs when there are two or more X chromosomes and one or more Y chromosomes

2.The genetic defect in Gaucher disease is _______________________

3.What is Barr body

1.The most common cause for male hypogonadism is

• a) Klinefelter’s syndrome
• b) Turner’s syndrome
• c) Down’s syndrome
• d) Edward’s syndrome

2.The typical karyotype of Turner syndrome is

• a) 45, XO
• b) 46, XY
• c) 47, XXY
• d) 47, XYY