Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.
until further notice
SourceAmerican Journal of Medical Genetics. Part A, 146A, 2, (2008), pp. 233-7
Article / Letter to editor
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American Journal of Medical Genetics. Part A
SubjectDCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; UMCN 5.1: Genetic defects of metabolism
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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