Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

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Publication year
2008Source
American Journal of Medical Genetics. Part A, 146A, 2, (2008), pp. 233-7ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
American Journal of Medical Genetics. Part A
Volume
vol. 146A
Issue
iss. 2
Page start
p. 233
Page end
p. 7
Subject
DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; UMCN 5.1: Genetic defects of metabolismAbstract
Congenital pseudoarthrosis of the clavicle (CPC) has been described in several genetic conditions including Floating-Harbor and Goltz syndromes, but rarely as a prompt to specific cytogenetic abnormalities. We report on a case of a de novo 10p11.21p12.1 microdeletion in a boy with multiple problems including a beaten copper appearance of the cranium on skull X-ray and pseudoarthrosis of the right clavicle. This is the first description of these particular skeletal findings in the context of a chromosome 10p deletion.
This item appears in the following Collection(s)
- Academic publications [227425]
- Electronic publications [107155]
- Faculty of Medical Sciences [86157]
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