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Journal of Medical Case Reports

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Open Access 01-12-2011 | Case report

Chromosome 3q29 deletion with gastrointestinal malformation: a case report

Author: Ma'in Masarweh

Published in: Journal of Medical Case Reports | Issue 1/2011

Abstract

Introduction

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.

Case presentation

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.

Conclusion

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.

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Title: Chromosome 3q29 deletion with gastrointestinal malformation: a case report
Author: Ma'in Masarweh
Publication date: 01-12-2011
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2011
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-5-285

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Chromosome 3q29 deletion with gastrointestinal malformation: a case report

Abstract

Introduction

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case presentation

Conclusion

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