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PMID: 2002493 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

The origin of a morphologically unidentifiable human supernumerary minichromosome traced through sorting, molecular cloning, and in situ hybridisation.

Journal of medical genetics ·Vol. 28 ·No. 2 ·1991-02-00 ·Pages 92-6

Raimondi E, Ferretti L, Young BD, Sgaramella V, De Carli L

Abstract

A supernumerary minichromosome has been detected in a severely malformed patient. Attempts at identifying the marker by conventional approaches were unsuccessful. The physical isolation of the minichromosome by fluorescence activated sorting, molecular cloning of its DNA, and in situ hybridisation experiments performed with single copy DNA probes allowed us to show that it was derived from a rearrangement involving the centromere and the proximal region of the short arm of chromosome 9.

MeSH Terms
Abnormalities, Multiple/genetics Cell Separation Centromere Chromosome Aberrations Chromosome Disorders Chromosome Mapping Chromosomes, Human, Pair 9 Cloning, Molecular DNA/analysis DNA Probes Female Flow Cytometry Humans Infant, Newborn Nucleic Acid Hybridization
Chemicals
DNA Probes DNA
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Raimondi E
Dipartimento di Genetica e Microbiologia A Buzzati Traverso, Pavia, Italy.
Ferretti L
Young B D
Sgaramella V
De Carli L
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1991-02-00
Pages
92-6
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1016775
Subset
IM
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