Chromosomal & Genetic Disorders

1.Klienfilter syndrome

1.Down syndrome

2.Klinefelter’s syndrome

3.Morphologic features in Trisomy 21

4.Turners syndrome

1.Turner’s syndrome

2.Barr body

3.Turner syndrome – aetiology and manifestations

4.What is the chromosomal abnormality in Down syndrome

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

6.The genetic defect in Gaucher disease is _______________________

7.What is Barr body

8.Downs syndrome Answer in single sentence: (4x½=2)

9.List two lysosomal disorders

10.Mention four inherited disorders

11.Name four autosomal dominant diseases

12.Balanced translocation Answer in single sentence: (4x½=2)

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.Syndromes associated with Wilms tumour are

• 1) WAGR
• 2) Gardner
• 3) Denys Drash
• 4) Beckwith Wiedemann
• a) 1, 2, 3
• b) 2, 3, 4
• c) 3, 4, 1
• d) 1, 2, 4

3.The typical karyotype of Turner syndrome is

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