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Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
  1. E K Pivnick,
  2. M B Qumsiyeh,
  3. A T Tharapel,
  4. J B Summitt,
  5. R S Wilroy
  1. Department of Pediatrics, University of Tennessee, Memphis 38163.


    Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.

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