Please help with translocation

Jeremy Kolt jdkol1 at MFS03.cc.monash.edu.au
Sun Aug 14 23:51:17 EST 1994


Hi, I am a third year medical student studying Medical Genetics. If anyone 
can help me with info to an assignment, it would be much appreciated.

I have a cytogenetic profile of an amniocentesis from a mother with a 
history of recurrent miscarriage. The result is a balanced 9/20 
translocation, in which the long arms of one chromosome 20 have been joined 
to the terminal ends of the long arms of one chromosome 9.

Would this fetus be viable?
I suspect that previous aborted fetuses would have been unbalanced 
translocations - is this correct?
What are the phenotypic effects of missing pieces of the terminal end of 20q?
What are the phenotypic effects of 9/20 translocations?
What is the frequncy of this abnormality?
What is the recurrent risk for future pregnancies?

I hope someone can help,
Thanks in advance,
Jeremy Kolt,
jdkol1 at mfs03.cc.monash.edu.au



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