A Rare 6q11+ Heteromorphism: Cytogenetic Analysis and in situ Hybridization
作者:
M.S. Lin,
A. Zhang,
A. Fujimoto,
M.G. Wilson,
期刊:
Human Heredity
(Karger Available online 1994)
卷期:
Volume 44,
issue 1
页码: 31-36
ISSN:0001-5652
年代: 1994
DOI:10.1159/000154186
出版商: S. Karger AG
关键词: Heteromorphism;Lateral asymmetry;α-Satellite DNA
数据来源: Karger
摘要:
A rare variant of 6q11+ heteromorphism was found in a fetus and the mother during amniocentesis. The G- and Q-banding and DA/DAPI stain were negative. The C-banding was positive and the C-banded segment was 3-fold longer in the variant than in its homologue. Neither of the C-banded regions of chromosomes 6 decondensed when exposed to distamycin A or 5-azacytidine. A DNA replication study indicated that the C-banded variant was late replicating. The lateral asymmetry observed in the 6q11 variant after one replication cycle in 5-bromodeoxyuridine may result from an unequal interstrand distribution of thymidine in the repetitive DNA. Fluorescent in situ hybridization using a chromosome-6-specific α-satellite probe (D6Z1) demonstrated hybridization signals on the centromere of chromosome 6. The 6q11 variant showed a signal which was 3-fold larger than its homologue. These results indicate that the 6q11 variant is an amplification of a chromosome-6-specific α repeat, and the size of the hybridization signal correlates with the size of the laterally asymmetric and C-banded regio
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