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Article

A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

Journal of medical genetics - 1 Jul 1996

Helali N, Iafolla A K, Kahler S G, Qumsiyeh M B

Abstract excerpt

A mild clinical phenotype is described in a patient with duplication of 13q32-->qter and a small deletion of 18p11.32-->pter. The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. The karyotype was found to be 46, XY, der(18)t(13;18) (q32;p11.32) pat confirmed by fluorescence in situ hybridisation (FISH). A review of...

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Identifiers

PMID: 8818949
DOI: 10.1136/jmg.33.7.600
PMCID: PMC1050671

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