title: Application of FISH and Q-PCR techniques in breakpoint diagnostics in three cases of marker chromosomes derived from chromosome 15.
abstract: BACKGROUND
  The goal of the study was a search for effective methods of diagnosing additional marker chromosomes.
  
  
  METHODS
  Three cases of extra structurally abnormal chromosomes (ESACs) were diagnosed, the ESACs having been derived from chromosome 15 by cytogenetic techniques, the fluorescence in situ hybridisation (FISH) technique and the quantitative--polymerase chain reaction (Q-PCR). An application of a set of commercially available probes, specific for the 15q11.2-q12 regions (PWACR-Prader-Willi/Angelman Critical Region) allowed for a description of the breaking points.
  
  
  RESULTS
  The presence of PWACR region was confirmed in one case and excluded in the other two. It was also attempted to apply the Q-PCR technique for a more accurate determination of the size of the region involved in chromosomal aberration, what would allow for a more reliable prognosing of the clinical outcome. In one of the patients, the breaking point was localized as distal to D15S144 locus, while it was proximal to D15S11 locus in the two remaining cases.
  
  
  CONCLUSIONS
  The obtained results demonstrate a possibility of using the Q-PCR method in diagnosing unbalanced chromosome aberrations.
authors.affiliation: Division of Genetics, Department of Medical Genetics, Medical University of Łodź, ul. Sterlinga 1/3, 91-425 Łódź, Poland.
authors.forename: Z
authors.initials: Z
authors.lastname: Helszer
authors.forename: M
authors.initials: M
authors.lastname: Constantinou
authors.forename: J
authors.initials: J
authors.lastname: Nowacka
authors.forename: G
authors.initials: G
authors.lastname: Płucienniczak
authors.forename: A
authors.initials: A
authors.lastname: Płucienniczak
authors.forename: B
authors.initials: B
authors.lastname: Kałuzewski
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D020440:Gene Duplication; D005819:Genetic Markers; D005821:Genetic Techniques; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008957:Models, Genetic; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers