FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype.

doi:10.1002/ajmg.1320520118

Article

FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype.

American journal of medical genetics - 1 Aug 1994

Chu T W, Teebi A S, Gibson L, Breg W R, Yang-Feng T L

Abstract excerpt

An infant girl with manifestations resembling Optiz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is...

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FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype.

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