Chromosome 3q29 deletion with gastrointestinal malformation: a case report
<p>Abstract</p> <p>Introduction</p> <p>Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 s...
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| Format: | Article |
| Language: | English |
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BMC
2011-07-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/5/1/285 |
| Summary: | <p>Abstract</p> <p>Introduction</p> <p>Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported.</p> <p>Case presentation</p> <p>A three-month-old female Jordanian baby presented with an absent anus and corneal opacities and was referred for further management after a diverting colostomy operation at the age of one day.</p> <p>Conclusion</p> <p>Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations. We need to investigate a patient fully to find such hidden clinical features.</p> |
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| ISSN: | 1752-1947 |