Mosaic tetrasomy 15q25→qter in a newborn infant with multiple anomalies |
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| Authors: | A Van den Enden M R Verschraegen-Spae N Van Roy W Decaluwe C De Praeter F Speleman |
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| Institution: | Departments of Medical Genetics and Pediatrics, University Hospital, Gent, Belgium |
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| Abstract: | We describe a premature boy with metopic craniosynostosis, facial anomalies, atrialseptal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25→qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 previously reported patients who were trisomic for the same part of chromosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q. © 1996 Wiley-Liss, Inc. |
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| Keywords: | tetrasomy 15q25→ qter chromosome 15 mosaicism marker chromosome |
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