@article {Pivnick523, author = {E K Pivnick and M B Qumsiyeh and A T Tharapel and J B Summitt and R S Wilroy}, title = {Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.}, volume = {27}, number = {8}, pages = {523--526}, year = {1990}, doi = {10.1136/jmg.27.8.523}, publisher = {BMJ Publishing Group Ltd}, 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{\textquoteright}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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/27/8/523}, eprint = {https://jmg.bmj.com/content/27/8/523.full.pdf}, journal = {Journal of Medical Genetics} }