Rudolph syndrome (red noses) and Elf syndrome (short stature, pointy ears) are c
ID: 173929 • Letter: R
Question
Rudolph syndrome (red noses) and Elf syndrome (short stature, pointy ears) are caused by defects at a locus on chromosome 7 that contains the Green and Xmas genes; the locus is known to be imprinted. Children with Rudolph syndrome typically have a deletion in the Xmas gene inherited from their father; children with Elf syndrome typically have a deletion in the Green gene inherited from their mother.
a) Which gene is not maternally expressed?
Liam has Elf syndrome. FISH analysis identifies two chromosome 7s – no deletion was present. Further genetic testing was performed on DNA from Liam and both his parents and showed that Liam inherited two chromosome 7s from one parent and none from the other.
b) From which parent did Liam inherit his chromosome 7s?
Explanation / Answer
a. The gene related with the Rudolph syndrome is inherited from father while the gene reponsible for elf syndrome is inherited from mother. So, the Xmas gene is not maternally expressed.
b. The gene for the Elf syndrome, Green gene is expressed maternally.So, the Liam has inherited chromosome 7s from his mother.
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