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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Does Microdeletion On Chromosome 2 Mean?

My grandson has been in hospital since his premature birth April 11th. Doctors have also done genetic testing and say he has a (micro)deletion on Chromosome 2. None of the doctors (including geneticist) knows what this means apparently because the base pairs area of deletion is entirely new uncharted territory. My son and daughter-in-law are not really too worried as they just want to get him home. (He has had breathing problems since birth, no steroids to mother so on ventilator for 9 weeks, then CPAP up until now. Had a gastrostomy mid-September because of feeding issues due to lung problems.) My grandson should be home within a couple of weeks but we're wondering if they should be taking the genetic glitch a little more seriously or not? (He has midface hypoplasia, proptosis, low set ears - which seem to be migrating closer to normal position as his head grows - 11 pair of ribs, shorter than average upper arms and upper legs, and, as I mentioned earlier the lung issues which affected his feeding and the need for a feeding tube). Do you know anything about Chromosome 2 and microdeletions there. I'm not even sure what part of the chromosome is affected. Is it possible that this "glitch" which wasn't even discovered until about the third or fourth round of genetic testing on him, will have little effect on him? Also, regarding the short stature both his parents are short with the father being only 5'3".
Tue, 13 Jan 2015
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General & Family Physician 's  Response
Hello,Welcome to the HCM
Brief answer...it is very rear genetic disease.
Detailed answer..since human body has total 46 chromosomes ,having two chromatids means 23 pairs one from mother and one from father.In the starting in the womb after fertilization every chromosome exchanges chromatids between each other so the gentic material exchanges between two chromatids of one each chromosome.If God forbide with bad luck any change in sequence of genetic material happens during exchanging some genetic problems happen in fetus.
Different syndromes are named after different mistakenly exchanging between chtomatids..
Like wise chromosome 2 deletion which can be on long arm or short arm of chromosome with different signs and symptoms..Because chromosome 2 has large number of genetic material controllling different tissues of body so any change in sequence can cause changes in different organs of body.And you have mentioned the characterstics of your grandson,these are because of change in the sequence of genetic material..for example if one word has got wrong spelling so the meaning of that word changes..e.g...PAN is a word if we change the sequene it becomes NAP. And viceversa.
We can say it happens only because of bad luck..
Hopefully I answered your question well.
Regards,Dr.Maheshwari
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What Does Microdeletion On Chromosome 2 Mean?

Hello,Welcome to the HCM Brief answer...it is very rear genetic disease. Detailed answer..since human body has total 46 chromosomes ,having two chromatids means 23 pairs one from mother and one from father.In the starting in the womb after fertilization every chromosome exchanges chromatids between each other so the gentic material exchanges between two chromatids of one each chromosome.If God forbide with bad luck any change in sequence of genetic material happens during exchanging some genetic problems happen in fetus. Different syndromes are named after different mistakenly exchanging between chtomatids.. Like wise chromosome 2 deletion which can be on long arm or short arm of chromosome with different signs and symptoms..Because chromosome 2 has large number of genetic material controllling different tissues of body so any change in sequence can cause changes in different organs of body.And you have mentioned the characterstics of your grandson,these are because of change in the sequence of genetic material..for example if one word has got wrong spelling so the meaning of that word changes..e.g...PAN is a word if we change the sequene it becomes NAP. And viceversa. We can say it happens only because of bad luck.. Hopefully I answered your question well. Regards,Dr.Maheshwari