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Title: Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.
Author(s): Shahdadpuri, R.; Vries, B. de ; Pfundt, R.P. ; Leeuw, N. de ; Reardon, W.
Publication year: 2008
Source: American Journal of Medical Genetics. Part A, vol. 146A, iss. 2, (2008), pp. 233-237
ISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.32088
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/71307   http://hdl.handle.net/2066/71307

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Subject: DCN 2: Functional Neurogenomics
IGMD 3: Genomic disorders and inherited multi-system disorders
UMCN 5.1: Genetic defects of metabolism
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. 237
Abstract:
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.

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