Ready reference to common segmental aneusomies by syndromic names, major features and chromosomal locations.

Abnormal gene dosage usually results in recognizable phenotypic abnormalities, especially if it involves a series of contiguous genes. Schmickel (1986) defined contiguous gene syndromes as diseases resulting from loss or gain of a series of adjacent genes. The terms microdeletion and microduplication as well as segmental aneusomy have also been used to describe such losses or gains that may not be readily detectable by Gbanded analysis.

Preclinical validation of fluorescence in situ hybridization assays for clinical practice.

Purpose: Validation of fluorescence in situ hybridization assays is required before using them in clinical practice. Yet, there are few published examples that describe the validation process, leading to inconsistent and sometimes inadequate validation practices. The purpose of this article is to describe a broadly applicable preclinical validation process.

Primer on medical genomics. Part XI: Visualizing human chromosomes.

In the past century, various methods to visualize human chromosomes were discovered. Chromosome analyses provide an overall view of the human genome that cannot be achieved with any other approach. The methods to visualize chromosomes include various techniques to produce bands along chromosomes, specialized procedures for specific disorders, and fluorescent-labeled DNA for targeted loci.