MICRODISSECTION AND DOP‐PCR‐BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORMALITIES

Abstract

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)(p15.2;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.