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Anyone have any personal experience as a physician or parent of a child with ring 13 chromosome?
If so, Im very confused. My son is 20-months old and also has holoprosencephaly (very mild grade) but none the less, is not walking, crawling or sitting up on his own. He is very small, only 20lbs and we were already prepared for a small child after consulting his Genetics Dr at Tx Childrens shortly after his birth. But why is he small? HGH levels are good or he wouldnt be gaining length right? Bones before muscles? Pituitary scan was good and his caloric intake is good according to his Gastro. Could we be dealing with a testosterone deficiency or is his lack of physical activity not driving his metabolism and muscle growth?
asked Jul 20, 2010 at 02:48PM in Pediatrics
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0Votes
answered Jul 21, 2010 at 11:38AMHello Chris,
This is an important question and I would like to send this out to our broader community to ensure that we can get an answer for you. Stay tuned - please also join us at www.crdnetwork.org
Thanks again,
Nicole
nicoleb@rareproject.org -
2Votes
answered Jul 29, 2010 at 01:12PMA child with a ring chromosome has a broken chromosome that has lost its tips from both its short arm and long arm, and the broken ends have joined together. Therefore there is some chromosome unbalance (depening on the amount of DNA lost). In any chromosome unbalance there is usually a reduced physical growth. Furthermore the ring chromosome is supposed to have some difficulties during cell division, for this reason children with a ring chromosome tend to have reduced physical growth. This is usually true regardless the specific chromosome involved.
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