PT  - JOURNAL ARTICLE
AU  - E K Pivnick
AU  - M B Qumsiyeh
AU  - A T Tharapel
AU  - J B Summitt
AU  - R S Wilroy
TI  - Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
AID  - 10.1136/jmg.27.8.523
DP  - 1990 Aug 01
TA  - Journal of Medical Genetics
PG  - 523--526
VI  - 27
IP  - 8
4099  - http://jmg.bmj.com/content/27/8/523.short
4100  - http://jmg.bmj.com/content/27/8/523.full
SO  - J Med Genet1990 Aug 01; 27
AB  - 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.