Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay
作者:
Cora M. Aalfs,
Marja E. Jacobs,
Marlëlle A. Nieste‐Otter,
Raoul C. M. Hennekam,
Jan M. N. Hoovers,
期刊:
Clinical Genetics
(WILEY Available online 1996)
卷期:
Volume 49,
issue 1
页码: 42-45
ISSN:0009-9163
年代: 1996
DOI:10.1111/j.1399-0004.1996.tb04323.x
出版商: Blackwell Publishing Ltd
关键词: case report;FISH studies;mild clinical features;supernumerary marker chromosomes 6 and 9
数据来源: WILEY
摘要:
We report on a boy with two supernumerary marker chromosomes which were identified by fluorescencein situhybridization and derived from chromosome 6 and 9. In lymphocytes, a mosaic karyotype was found: 46,XY (17%)/47,XY,r(6) (24%)/47,XY,r(9) (20%)/48,XY,r(6),r(9) (39%). Only minor dysmorphic features and mild developmental delay were present. Despite extensive fluorescencein situhybridization studies using a large panel of probes, we were unable to characterize the marker chromosomes in more detail, mainly because no probes for the chromosome regions involved were available to us. In order to reach a better understanding of the clinical relevance of small supernumerary marker chromosomes, it will be necessary to create a widely available set of probes, covering all chromosome regions.
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