Deletion of the short arm of chromosome 10 (10p13) : report of a patient and review

Shapira, M.; Borochowitz, Z.; Bar-El, H.; Dar, H.; Etzioni, A.; Lorber, A.

American Journal of Medical Genetics 52(1): 34-38

1994


ISSN/ISBN: 0148-7299
PMID: 7977458
DOI: 10.1002/ajmg.1320520107
Accession: 045720368

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Summary
Since the first description by Elliot et al. [1970, Am J Dis Child 119:72-73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature.

Deletion of the short arm of chromosome 10 (10p13): report of a patient and review