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Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

✍ Scribed by Rothenmund, H.; Chudley, A. E.; Dawson, A. J.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 18 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971031)72:3<339::aid-ajmg17>3.0.co;2-u

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✦ Synopsis

A father and his 2 daughters were previously determined to carry a small, supernumerary marker chromosome [Chudley et al., 1983]. The origin of this marker could not be determined by standard cytogenetic techniques. In this study, fluorescence in situ hybridization (FISH) studies identified the marker chromosome as a pericentric derivative of chromosome 8. The father has low grade mosaicism for this marker and is phenotypically normal. Both daughters are non-mosaic and show developmental delays and somewhat differing clinical findings. The phenotypes of the 2 sisters are compared with those previously reported for supernumerary der(8) patients. This is the first report of familial transmission of a supernumerary der(8) marker chromosome.

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