title: Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.
abstract: 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.
authors.affiliation: INSERM U406, Faculté de Médecine Timône, Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Mignon
authors.forename: F
authors.initials: F
authors.lastname: Parente
authors.forename: C
authors.initials: C
authors.lastname: Stavropoulou
authors.forename: P
authors.initials: P
authors.lastname: Collignon
authors.forename: A
authors.initials: A
authors.lastname: Moncla
authors.forename: C
authors.initials: C
authors.lastname: Turc-Carel
authors.forename: M G
authors.initials: MG
authors.lastname: Mattei
mesh_terms: D000293:Adolescent; D017204:Angelman Syndrome / Q000235:genetics; D001324:Autoantigens / Q000235:genetics; D002843:Chromatin / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019175:DNA Methylation; D004261:DNA Replication; D005260:Female; D005784:Gene Amplification; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D002843:Chromatin; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins