16p11.2 microdeletions - Unique - The Rare Chromosome Disorder ...
16p11.2 microdeletions - Unique - The Rare Chromosome Disorder ...
16p11.2 microdeletions - Unique - The Rare Chromosome Disorder ...
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One child had constipation, attributed to too little fluid intake. One child was born with a<br />
blockage in the digestive tract [duodenal stenosis] that was repaired surgically at<br />
4 days.<br />
Structural brain abnormalities<br />
Of the two children who have had brain imaging, neither has any visible structural<br />
anomalies (<strong>Unique</strong>).<br />
Heart<br />
No heart abnormalities were found in 5 <strong>Unique</strong> children.<br />
Spine<br />
One child was found to have a wedge-shaped bone in the spine known as a hemivertebra<br />
(page 16). Hemivertebrae are caused by incomplete development of one side of the<br />
vertebra. In most cases there are no symptoms or they are mild but they can cause a<br />
curve in the spine resulting in scoliosis, kyphosis or lordosis and will therefore be<br />
monitored.<br />
General health and wellbeing; puberty<br />
Four <strong>Unique</strong> members were reported generally healthy, although the youngest, a 16-<br />
month-old, had two urinary infections and several virus infections and another was prone<br />
to chest and ear infections before the age of 5 but outgrew the tendency. One child of 5<br />
was prone to both skin infections and to colds, with breathing difficulties interrupting his<br />
sleep. One child has a squint [strabismus]; otherwise there are no reported vision<br />
problems. <strong>The</strong>re are no hearing problems reported. One child was reported to have<br />
unusually placed teeth (<strong>Unique</strong>).<br />
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