6533b862fe1ef96bd12c646c
RESEARCH PRODUCT
MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORMALITIES
Engelhardt SchleiermacherDetlef OehlerJutta Müller-naviaBernhard ZabelAlmut NebelUrsel Theilesubject
Cri-du-Chat SyndromeDerivative chromosomeMarker chromosomeChromosomal translocationBiologyPolymerase Chain ReactionTranslocation GeneticChromosome (genetic algorithm)PregnancyPrenatal DiagnosismedicineHumansWolf–Hirschhorn syndromeIn Situ Hybridization FluorescenceGenetics (clinical)Chromosomal inversionChromosome 13Chromosome AberrationsGeneticsChromosomes Human Pair 13DissectionInfant NewbornObstetrics and Gynecologymedicine.diseaseMolecular biologyGenetic TechniquesChromosome 3FemaleChromosomes Human Pair 3Chromosomes Human Pair 4Gene DeletionChromosomes Human Pair 8description
Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:p13-p15.1::p15.1-qter)] which is responsible for the manifestation of the cri-du-chat syndrome. The importance of a fast and reliable evaluation of complex chromosome aberrations in pre- and postnatal diagnosis with regard to comprehensive genetic counselling is emphasized.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1996-10-01 | Prenatal Diagnosis |