The 11p15.5 chromosomal region: When did the instability occur?

The disturbances of the 11p15.5 chromosomal region are associated with Beckwith-Wiedemann syndrome, Russell-Silver syndrome, Wilms tumor, IMAGe syndrome, and idiopathic hemihyperplasia. The aim of this research was to examine the hypothesis that 11p15.5 initially became unstable in the European population about 200 years ago. The medical literature from 1557 onwards, especially treatises on teratology, body asymmetry, and books of normal and pathologic anatomy, was searched for any mentioning of lateral body asymmetry, macroglossia and other possible visually detectable symptoms associated with the above-mentioned syndromes. The results indicate that lateral body asymmetry was not described before the first half of the 19th century, it was mentioned in the 1820s, and the first description of a true case was published in 1850. All first cases of hemihyperplasia were reported in continental Europe. Historical data suggest that the 11p15.5 chromosomal region became unstable in the first half of the 19th century. Our preliminary hypothesis is that de novo mutation occurred in continental Europe. Additional genetic research is needed to investigate the development of 11p15.5 instability during this period.

Hemihyperplasia: History of medicine assists medical genetics.

This paper examines the role of the history of medicine in case of congenital isolated hemihyperplasia. Isolated hemihyperplasia is a genetic disorder in which one side of the body grows more than the other, causing visible lateral asymmetry of the human body. The date of the occurrence of the genetic mutation that leads to hemihyperplasia is not known yet. The aim of the current research was to confirm or to disprove the fact that isolated hemihyperplasia was first described in the first half of the 19th century. Using the case of hemihyperplasia we aimed to demonstrate how historical analysis may assist medical genetics in cases when estimating a mutation date is necessary. Medical literature from 1573 onwards was searched for any mention of hemihypertrophy, hemihyperplasia, hemi-gigantism, partial gigantism, hemi-macrosomia and other possible descriptions for pathological lateral body overgrowth. Historical analysis suggests that the mutation in question occurred in the first half of the 19th century, approximately 200 years ago. This led to the appearance of hemihyperplasia and subsequent hemihyperplasia-including syndromes. An additional genetic research is needed for investigation of the development of the involved chromosomal region instability since this period. Such research may use the timeline orientation provided by the history of medicine.