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Identification of supernumerary der(20) chromosomes by FISH in three patients

✍ Scribed by Viersbach, Renate; Engels, Hartmut; Schwanitz, Gesa

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 195 KB
Volume: 70
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970613)70:3<278::aid-ajmg12>3.0.co;2-i

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✦ Synopsis

Small supernumerary marker chromosomes of 3 patients were characterized at the molecular cytogenetic level. Two ring chromosomes and one metacentric marker were shown to be distamycinA/DAPI-negative and did not possess satellite regions after conventional banding techniques. Fluorescence in situ hybridization (FISH) was performed and in all 3 cases the supernumerary markers were shown to be derived from chromosome 20. Phenotypes are described and discussed with respect to karyotypes. Two of the patients are developmentally and/or phenotypically normal. The first patient has a ring chromosome, containing a small amount of euchromatic material; the second patient is the carrier of a small, metacentric and most probably heterochromatic marker. Patient 3 has physical anomalies, including a congenital heart defect and delayed motor development, but is intellectually almost normal. His marker chromosome is a ring containing a small amount of euchromatic material.

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