Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.

doi:10.1111/j.1399-0004.1996.tb04325.x

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Article

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.

Clinical genetics - 1 Jan 1996

van Langen I M, Otter M A, Aronson D C, Overweg-Plandsoen W C, Hennekam R C, Leschot N J, Hoovers J M

Abstract excerpt

We report on a boy with mild dysmorphic features and developmental delay, in whom karyotyping showed an additional minute ring chromosome in 60% of metaphases. Fluorescence in situ hybridization (FISH) with a centromere specific probe demonstrated that the ring chromosome contained the centromeri...

Topics

Abnormalities, Multiple
Adult
Chromosomes, Human, Pair 20
Developmental Disabilities
Follow-Up Studies
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Mosaicism
Phenotype
Ring Chromosomes

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