Question

Which of the following is the correct match?
A. I-Thalassemia; II-XO; III-Flat nose, simian crease
B. I-Down's syndrome; II- 42 AA+XY; III- webbing of neck
C. I-Turner's syndrome; II- 44 AA + XXX; III- Anaemia, jaundice
D. I-Klinefelter’s syndrome; II-44 AA+XXY; III-Tall thin eunuchoid

Answer 1

Thalassemia is a blood disorder where a person suffers from anemia, Down syndrome is the chromosomal disorder where there is an extra chromosome, the Turners syndrome is the condition in which the X chromosome in the female is missing or partially missing.

Complete answer: Thalassemia is a blood disorder which is caused due to the mutation of the gene which encodes for hemoglobin, this causes the destruction of the erythrocytes which leads to anemia, people affected with these have the symptoms such as fatigue, tiredness, pale skin, bone deformities, dark urine. Down syndrome is a chromosomal disorder where there is an extra copy of chromosome 21 the symptoms of this disorder are a small round head, short stature, mental retardedness, furrowed tongue, and mouth partially open. Turner’s syndrome is the condition where the X chromosome is missing, this condition is seen in females, the symptoms can be poor growth. Klinefelter's syndrome is the presence of the extra X chromosome in males and symptoms are a tall and thin body structure, enlarged breast, and eunuchoid body. The presence of the extra X chromosome is due to the error in the formation of the sperm or the egg. In the karyotype, the chromosomal abnormality where there is the presence of an extra X-chromosome in the male is referred to as the Klinefelter’s syndrome, where the karyotype is 44 (AA+XXY).
Hence, the correct option is ‘D’.

Note: The Klinefelter’s syndrome is the presence of the extra X-chromosome copies in males, where the affected male has a karyotype 44 AA+ XXY, the presence of these extra X-chromosome can be more than two or two that is the karyotype will be 44 AA+XXXY or 44 AA+XXXXY. The person who is affected will have a tall and thin structure, showing feminine characters, that is they have enlarged breasts and have a eunuchoid body.