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Croat Med J. 1998 Jun;39(2):212-5.

Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.

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1
Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Center, Zagreb, Croatia.

Abstract

We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter.

PMID:
9575279
[Indexed for MEDLINE]

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