Journal article
A FUNCTIONAL MARKER CENTROMERE WITH NO DETECTABLE ALPHA-SATELLITE, SATELLITE-III, OR CENP-B PROTEIN - ACTIVATION OF A LATENT CENTROMERE
LE VOULLAIRE, HR SLATER, V PETROVIC, KHA CHOO
AMERICAN JOURNAL OF HUMAN GENETICS | UNIV CHICAGO PRESS | Published : 1993
Abstract
We report the investigation of an unusual human supernumerary marker chromosome 10 designated "mar del(10)." This marker is present together with two other marker chromosomes in the karyotype of a boy with mild developmental delay. It has a functional centromere at a primary constriction and is mitotically stable. Fluorescence in situ hybridization (FISH) using alpha-satellite and satellite III DNA as probes failed to detect any signal at the primary constriction site. CENP-B protein could not be demonstrated, although the presence of at least some centromeric proteins was confirmed using a CREST antiserum. Consideration of these and other cytogenetic and FISH results supports a mechanism of..
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