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Partial Trisomy of the Long Arm of Human Chromosome 1 As Demostrated by in Situ Hybridization with 5S Ribosomal RNA

Overview
Journal Hum Genet
Specialty Genetics
Date 1977 Apr 7
PMID 870409
Citations 18
Authors
D M Steffensen
E H Chu
D P Speert
P M Wall
K Meilinger
R P Kelch
Affiliations
Soon will be listed here.
Abstract

In a newborn boy with multiple malformations, a tandem duplication was detected at the distal end of the long arm of one human chromosome 1. The Giemsa bands, 1q31 to 1q43--44, were repeated serially. Since 5S rRNA genes are located at 1q42--43, in situ hybridization of 125I 5S rRNA with fixed chromosome preparations was used to confirm the chromosomal duplication. The infant exhibited numerous developmental and clinical abnormalities as might be expected with an abnormality of chromosome structure relating to a ribosome component.

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Partial 1q Duplications and Associated Phenotype.

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