Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.
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.
Begovic
D
D
Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Center, Zagreb, Croatia.
Hitrec
V
V
Lasan
R
R
Letica
L
L
Baric
I
I
Sarnavka
V
V
Galic
S
S
D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*