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Case Reports
A case of 47,XY,+der(15),t(3;15) (p25;qll)pat presenting as partial 3p trisomy syndrome with multiple joint contractures
  1. Joseph H Hersh,
  2. Robert M Greenstein,
  3. Janice C Perkins,
  4. Patricia C Reardon
  1. University of Louisville, School of Medicine, Child Evaluation Center, Louisville, Kentucky, USA
  2. Department of Pediatrics, University of Connecticut Health Center, Farmington, Connecticut, USA

    Abstract

    Partial 3p trisomy is a rare chromosomal syndrome which results in a characteristic phenotype. We present a case of partial 3;15 trisomy with clinical features of partial 3p trisomy syndrome and multiple joint contractures.

    https://doi.org/10.1136/jmg.17.5.396

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