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J Med Genet. Aug 1990; 27(8): 523–526.
PMCID: PMC1017204
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
E K Pivnick, M B Qumsiyeh, A T Tharapel, J B Summitt, and R S Wilroy
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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