1) Hemophilia is an impairment of blood clotting that is heritable. Parents that
ID: 19134 • Letter: 1
Question
1) Hemophilia is an impairment of blood clotting that is heritable. Parents that do not show signs of impairment have a son who expresses the hemophilia phenotype. Simultaneously, he also shows the Klinefelter syndrome.How can you explain the simultaneous occurrence of Klinefelter syndrome and the x-linked recessive hemophilia? Please include in your answer the abnormal chromosomal behavior at meiosis.
Can you tell whether the recessive allele(s) originated from the father or from the mother? Please explain why!
Can you tell at what stage of meiosis the abnormal chromosomal behavior occurred? Please explain why!
Explanation / Answer
HEMOPHILA ALLELE---------XC
Mother is carrier -------GENOTYPE -----XXC
BECAUSE OF NON DISJUNTION IN MOTHER DURING OGENEIS AT M1 STAGE
–LEAD TO FORMATION OF
OVA-----------XXC
AND NULLISOMIC OVA
FATHER ---------GENOTYPE -----------XY
OVA-----------XXC FUSES WITH NORMAL SPERM CARRYING Y CHROMOSOME
RESULTS IN Klinefelter syndrome WITH hemophilia phenotype.
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