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

✍ Scribed by Shapira, Moshe ;Borochowitz, Zvi ;Bar-El, Hanna ;Dar, Hanna ;Etzioni, Amos ;Lorber, Avraham

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 508 KB
Volume: 52
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320520107

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✦ Synopsis

Since the first description by Elliot et al. 11970, Am J Dis Child 119:72-731 of a probable partial deletion of chromosome lop, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The lop deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of lop deletion syndrome and review the literature.

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