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Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families


Guttenbach, M; Haaf, T; Steinlein, C; Caesar, J; Schinzel, Albert; Schmid, M (1999). Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families. Journal of Medical Genetics, 36(4):339-42.

Abstract

Two different NOR bearing non-acrocentric chromosomes were detected during prenatal diagnosis performed on two probands because of advanced maternal age. In the first case, a chromosome 4 carried a NOR in the telomeric region of the long arm (4qs), while in the second case a NOR was inserted into chromosome 8q11. Family analysis showed the variant chromosomes to be transmitted through at least three generations in each family. There were no reports of reproductive problems or phenotypic effects in the carriers of these chromosomes, indicating the benign character of the aberrant chromosomes. In order to characterise the chromosomal variants more precisely, various differential banding techniques were applied.

Abstract

Two different NOR bearing non-acrocentric chromosomes were detected during prenatal diagnosis performed on two probands because of advanced maternal age. In the first case, a chromosome 4 carried a NOR in the telomeric region of the long arm (4qs), while in the second case a NOR was inserted into chromosome 8q11. Family analysis showed the variant chromosomes to be transmitted through at least three generations in each family. There were no reports of reproductive problems or phenotypic effects in the carriers of these chromosomes, indicating the benign character of the aberrant chromosomes. In order to characterise the chromosomal variants more precisely, various differential banding techniques were applied.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:nucleolus organiser region, non-acrocentric chromosome; 4qs, NOR insertion, Genetics (clinical)
Language:English
Date:April 1999
Deposited On:22 Jun 2023 17:01
Last Modified:29 Apr 2024 01:38
Publisher:BMJ Publishing Group
ISSN:0022-2593
Additional Information:Please pay attention the DOI 10.1136/jmg.36.4.339 is broken, please use the official URL
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1136/jmg.36.4.339
Official URL:https://jmg.bmj.com/content/36/4/339
Related URLs: (Library Catalogue)
PubMed ID:10227407
Other Identification Number:PMCID: PMC1734337