Is this typical of this disease?
It's rather difficult to say. Abnormalities of chromosome 4 are extremely
rare so there are not that many cases on which to base a definitive answer. You can find information about the most common abnormalities at this website (published by the National Institutes of Health, so it's reputable): http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene?=whs
Regardless of what the literature says, however, the physician at the bedside will always have the best information about prognosis, because the manifestations of a genetic disorder vary, and ultimately, every patient is an individual. Just as an example, if you're born with insufficient lung
capacity to survive, then the average survival time of all the other cases is not really relevant. You have to talk to the physicians there with the patient. Is it hereditary?
There are two possible answers here;
- either the mutation happened "de novo" (neither parent carries an abnormality and there is almost no chance it will happen again), OR
- the parent(s) themselves carry an abnormality, and there is a very high risk that future children will be affected.
Defects with chromosome 4 arise "de novo" 75% of the time, so it is most likely that there is no future risk. But it may not be possible to tell without genetically testing the parents. The genetics expert who examined the child's karyotype should be able to tell you whether the parents will need testing to make this determination. If the parents are at risk, and do attempt to conceive again, then they should discuss the need for in uteru testing of future pregnacnies.
I hope this answers your question. But regardless of whatever the answers, it is a mother's worst nightmare to give birth to a child with any genetic defect. I will say a prayer for this patient and his/her family.