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

doi:10.1002/ajmg.1320520118

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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 app...

Topics

Abnormalities, Multiple
Aneuploidy
Chromosome Mapping
Chromosomes, Human, Pair 13
Female
Hand Deformities, Congenital
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Phenotype
Skull
Trisomy

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