Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22
| Autor: | van Ton Essen, R. A. Van Lingen, Robert M.W. Hofstra, Chcm Buys, Jgv Campagne, Katelijne Bouman, Jbgm Verheij, AY van der Veen, B Leegte |
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| Rok vydání: | 1999 |
| Předmět: |
CHROMOSOME-9
Genetics Unequal crossing over 15Q11-Q13 medicine.diagnostic_test Psychomotor retardation Aneuploidy Chromosome 9 Biology medicine.disease PATIENT GENE partial tetrasomy 9p Chromosomal crossover MULTIPLE CONGENITAL-ANOMALIES intrachromosomal triplication Tetrasomy medicine de novo origin PRENATAL-DIAGNOSIS Tetrasomy 9p medicine.symptom Genetics (clinical) Fluorescence in situ hybridization |
| Zdroj: | American Journal of Medical Genetics, 86(2), 168-173. WILEY-LISS |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19990910)86:2<168::aid-ajmg16>3.0.co;2-q |
| Popis: | To date, approximately 30 patients have been described with a tetrasomy 9p, all being caused by the presence of an isochromosome 9p, We now report on a 3-year-old boy with a de novo intrachromosomal triplication of 9p13-p22, resulting in partial tetrasomy 9p, We compared his phenotype with cases of tetrasomy 9p caused by the presence of an extra isochromosome 9p. He has facial anomalies similar to those of cases of tetrasomy 9p, central nervous system abnormalities, and severe psychomotor retardation but no other major congenital anomalies. Fluorescence in situ hybridization with region-specific probes showed that the middle repeat of the triplicated part is inverted. Microsatellite analysis demonstrated an involvement of both paternal chromosome 9 homologues in the triplication, This is compatible with either unequal crossing over of three of the four chromatids in paternal meiosis I or with a double crossing over in meiosis I and II (or an early mitotic division). (C) 1999 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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