Identification of a small supernumerary marker chromosome,r(2)(p10q11.2), and the problem of determining prognosis |
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Authors: | N. Villa P. Riva D. Colombo E. Sala S. Mariani C. Zorloni F. Crosti L. Dalprà |
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Affiliation: | 1. Genetic Laboratory, S. Gerardo Hospital, Monza, Italy;2. Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy;3. Obstetrics and Gynaecological Clinic, S. Gerardo Hospital, Monza, Italy;4. Neonatal Care Unit, S. Gerardo Hospital, Monza, Italy;5. Department of Experimental and Environmental Medicine and Medical Biotechnology, University of Milan-Bicocca, Monza, Italy |
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Abstract: | The identification of small supernumerary marker chromosomes (SMCs) and the elucidation of their clinical significance remain two of the problems in classical human cytogenetics. We observed a small supernumerary ring in amniotic fluid cell cultures and identified its origin as r(2)(p10q11.2) and its extent by means of fluorescent in situ hybridisation (FISH). Uniparental disomy (UPD) was excluded by microsatellite analysis using polymorphic markers localised in the same region. On the basis of normal ultrasonographic checks, the patient decided to continue the pregnancy. A normal female was delivered at term and subsequent neonatal follow-ups confirmed the normal phenotype and development. In the present case, genetic counselling was not helpful because of the absence of reference cases. Detailed characterisation made it possible to correlate the normal baby phenotype with the trisomic 2p10-2q11.2 genomic region. Further molecular cytogenetic investigations of SMCs classified by DNA content and pregnancy outcome data should improve genetic counselling and risk evaluation. Copyright © 2001 John Wiley & Sons, Ltd. |
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Keywords: | small supernumerary marker chromosome phenotype–karyotype correlation FISH YAC contig |
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