Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities.
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.
Müller-Navia
J
J
Institut für Anthropologie, Johannes Gutenberg-Universität Mainz, Germany.
Nebel
A
A
Oehler
D
D
Theile
U
U
Zabel
B
B
Schleiermacher
E
E
D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D002898:Chromosomes, Human, Pair 8; D003410:Cri-du-Chat Syndrome / Q000235:genetics; D004210:Dissection; D005260:Female; D017353:Gene Deletion; D005821:Genetic Techniques; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic