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Mosaic tetrasomy 15q25→qter in a newborn infant with multiple anomalies

✍ Scribed by Van den Enden, A.; Verschraegen-Spae, M. R.; Van Roy, N.; Decaluwe, W.; De Praeter, C.; Speleman, F.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 23 KB
Volume: 63
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960614)63:3<482::aid-ajmg13>3.0.co;2-i

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✦ Synopsis

We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septa1 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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