(a) Extra X chromosomes (e.g., XXY, XXX, XXXX) are associated with mental retardation.
Principles of Inheritance and Variation
(b) Woman is X^c X (carrier); man is X^c Y. Daughters: 1/2 X^c X^c (colour blind) and 1/2 X^c X (carrier).
(a) Mother is X^H X^h (carrier); one son received X^h (haemophilic) and the other received X^H (normal).
(b) Glutamic acid is replaced by valine in the 6th position of the beta-globin chain.
(a) Aneuploidy = abnormal number of individual chromosomes (gain or loss of one or a few).
(c) Sickle cell anaemia gene shows pleiotropy: affects RBC shape, oxygen transport, and provides malaria resistance.
(b) Colour blindness is an X-linked recessive disorder.
(a) Down syndrome is caused by trisomy of chromosome 21.
(d) Affected mother produces 50% normal (n) and 50% trisomic (n+1) ova; 50% of offspring affected.
(b) Christmas disease = haemophilia B (factor IX deficiency), named after Stephen Christmas.