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Am J Med Genet. 1996 Jun 14;63(3):482-5.

Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.

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  • 1Department of Medical Genetics, University Hospital, Gent, Belgium.

Erratum in

  • Am J Med Genet 1996 Aug 23;64(3):528.


We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septal 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.

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