Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies

In a 15 year old girl, referred for growth retardation, conventional cytogenetic analysis detected an abnormal 15q+ chromosome with extra material in the proximal region, inherited from her father and grandfather. Using various molecular cytogenetic techniques, including comparative genomic hybridis...

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Bibliographic Details
Published in:Journal of medical genetics 1997-03, Vol.34 (3), p.217-222
Main Authors: Mignon, C, Parente, F, Stavropoulou, C, Collignon, P, Moncla, A, Turc-Carel, C, Mattei, M G
Format: Article
Language:English
Subjects:
Adolescent
Angelman Syndrome - genetics
Autoantigens - genetics
Biological and medical sciences
Chromatin - genetics
Chromosome aberrations
Chromosome Aberrations - genetics
Chromosomes, Human, Pair 15 - genetics
DNA Methylation
DNA Replication
Female
Gene Amplification
Growth Disorders - genetics
Humans
Male
Medical genetics
Medical sciences
Prader-Willi Syndrome - genetics
Ribonucleoproteins, Small Nuclear - genetics
snRNP Core Proteins
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Summary:In a 15 year old girl, referred for growth retardation, conventional cytogenetic analysis detected an abnormal 15q+ chromosome with extra material in the proximal region, inherited from her father and grandfather. Using various molecular cytogenetic techniques, including comparative genomic hybridisation, we showed that the extra chromatin resulted from in situ amplification of DNA sequences located between the loci D15Z1 and D15S18. On the basis of the clinical features of our patient and the late replication of the large amplified region, we searched for functional modifications in the adjacent Prader-Willi syndrome region.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.34.3.217