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Pure de novo partial trisomy 6p in a girl with craniosynostosis

Abstract:

Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is ...

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Publisher copy:
10.1002/ajmg.a.35727

Authors


Varvagiannis, K More by this author
Stefanidou, A More by this author
Gyftodimou, Y More by this author
Williams, L More by this author
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Journal:
American Journal of Medical Genetics, Part A
Volume:
161
Issue:
2
Pages:
343-351
Publication date:
2013-02-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:6afcfece-7d0b-4e07-afcc-dc99994f01eb
Source identifiers:
384825
Local pid:
pubs:384825

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