Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities

Prenatal Diagnosis
J Müller-NaviaE Schleiermacher

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)(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.

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Citations

Dec 13, 2006·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Wen PengKazumi Ikawa
Aug 12, 2000·Redox Report : Communications in Free Radical Research·J K Burgess, R H Hazelton
Nov 9, 2005·Cytogenetic and Genome Research·T LiehrH Starke
Nov 29, 2014·Genome Génome / Conseil National De Recherches Canada·Chuanliang DengZanmin Hu

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