A novel mechanism for the origin of supernumerary marker chromosomes.

Human genetics ·Vol. 97 ·No. 3 ·1996-03-00 ·Pages 382-6

Maraschio P, Tupler R, Rossi E, Barbierato L, Uccellatore F, Rocchi M, Zuffardi O, Fraccaro M

Abstract

A ring chromosome 3 and a 47th chromosome formed by the portions of 3p and 3q distal to the r(3) breakpoints were found in a girl with mental retardation and minor facial anomalies. The supernumerary chromosome 3, rea(3), had a primary constriction inside its 3p portion (3p23) and was consistently stable both in lymphocytes and fibroblasts. In situ hybridization with alphoid probes revealed that the r(3) maintained its wild-type-centromere, whereas the rea(3) showed no alphoid-related signals. This case and a similar one recently reported demonstrate that acentric fragments can acquire a new centromere and become stable, and that supernumerary marker chromosomes can also originate by the junction of the acentric portions distal to the centric region forming a ring. The possibility of such a chromosome segregating will depend on its ability to (re)activate a new centromere.

MeSH Terms

Adult Chromosome Aberrations Chromosome Disorders Chromosome Mapping Chromosomes, Human, Pair 3/genetics Face/abnormalities Female Genetic Markers Humans In Situ Hybridization, Fluorescence Intellectual Disability/genetics Karyotyping Prohibitins Ring Chromosomes

Chemicals

Genetic Markers PHB2 protein, human Prohibitins

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Maraschio P

Biologia Generale e Genetica Medica, Università di Pavia, Italy.

Tupler R

Rossi E

Barbierato L

Uccellatore F

Rocchi M

Zuffardi O

Fraccaro M

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF02185778

Published

1996-03-00

Pages

382-6

Language

English

Region

Germany

NLM ID

7613873

Subset

Grants

Telethon · E.0336 · Italy

External Links

PubMed source DOI: 10.1007/BF02185778 View journal details

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A novel mechanism for the origin of supernumerary marker chromosomes.

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