Dicentric chromosome 13 and centromere inactivation.

Human genetics ·Vol. 63 ·No. 4 ·1983-00-00 ·Pages 332-7

Schwartz S, Palmer CG, Weaver DD, Priest J

Abstract

The karyotype of a child with dysmorphic findings suggestive of both trisomy 13 and the 13q--syndrome was found to have cells with one of two different dicentric chromosomes: one bearing a duplication of chromosome 13q [46,XX,-13, + psu dic (13)t(13;13)(pter leads to cen leads to q34::q34 leads to pter)] and the other a deletion of 13q [46,XX,-13, + psu dic (13)t(13;13)(pter leads to cen leads to q22::q11 leads to pter]. Longitudinal cytogenetic studies in leukocytes demonstrated a loss of those cells possessing the small dicentric [psu dic(13)(q22;q11)], whereas fibroblasts from two separate skin biopsies contained only this marker. Q-band polymorphisms indicated that both dicentrics were of paternal origin, with the smaller dicentric derived from the larger via the bridge-breakage-fusion cycle. The presence of two active centromeres could not be confirmed in either dicentric.

MeSH Terms

Centromere/physiology Chromosome Aberrations/genetics Chromosome Banding Chromosome Deletion Chromosome Disorders Chromosomes/physiology Chromosomes, Human, 13-15/ultrastructure Female Humans Infant Karyotyping Mitosis Trisomy

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Schwartz S

Palmer C G

Weaver D D

Priest J

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30 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00274757

Published

1983-00-00

Pages

332-7

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00274757 View journal details

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Dicentric chromosome 13 and centromere inactivation.

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