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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.

    Abstract

    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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