Inherited birth defect?

JoNightshade · Mar 25, 2009

I'm looking for a type of birth defect that would be inherited from a parent (in this case the father) which would cause the baby to die shortly after it was born (ie brain or organs grow outside of skull, something like that). I had been intending to use Trisomy 13 but I just realized it's not inherited. It would be nice if this was something that could be easily detected via ultrasound before birth.

Kitty Pryde · Mar 25, 2009

OK, it would have to be a RECESSIVE disorder otherwise it would have killed THE FATHER. Meaning that it would have to be inherited from BOTH parents.

encephalocele or omphalocele (brain or organs not inside body) are caused by disorders of development, not genetic disorders, usually.

JoNightshade · Mar 25, 2009

Hmmm. Anything else?

The most important thing is the kid dies quickly and the dad has a part.

Kitty Pryde · Mar 25, 2009

OR you may want something that occurs as a spontaneous mutation. Meaning that neither parent carries it, but a spontaneous mutation causes that particular sperm (or egg!) to have the bad gene. For that you could do osteogenesis imperfecta--some types of it are fatal early in life. Also very easy to see in an ultrasound: broken bones, curved bones, short bones, etc.

JoNightshade · Mar 25, 2009

Here's the thing... the guy later has kids with another woman and I need the same thing to happen. :tongue

Puma · Mar 25, 2009

What about genetic heart defects like a hole in the heart? Puma

JoNightshade · Mar 25, 2009

That might work - if it wasn't severe in the dad, or maybe his family just has a history of it, and the child has it to a degree that cannot sustain life. Actually I can't believe I didn't think of that myself... I just met someone on Sunday whose kid has a rare heart condition which is normally fatal!

Kitty Pryde · Mar 25, 2009

hmm, prader-willi syndrome is a spontaneous chromosomal deletion that's always inherited from the dad. usually doesn't kill a person, but it causes hypotonia and failure to thrive and decreased suckling reflex from birth, so it COULD if you wanted it to.

Kitty Pryde · Mar 25, 2009

a really tall dad could have marfan syndrome and pass it on to his kids--it can be mild or it can be severe, it can have early or late onset of life-threatening problems.

BillTrain · Mar 25, 2009

You could still use Trisomy 13:
http://ghr.nlm.nih.gov/condition=trisomy13
an unaffected father could have a balanced genetic translocation, so he wouldn't be affected, but his children probably would be. Just a thought.
BT

Inherited birth defect?

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