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Review
. 1990 Aug;27(8):523-6.
doi: 10.1136/jmg.27.8.523.

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome

E K Pivnick  1 , M B Qumsiyeh, A T Tharapel, J B Summitt, R S Wilroy
Affiliations
Review

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome

E K Pivnick et al. J Med Genet. 1990 Aug.

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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