Learn about chromosomal disorders, including their causes, symptoms, and available treatments. Discover how you can support individuals with chromosomal disorders and find resources for further information.
26/jan/2012 - To complement the 2005 Annual Clinical Focus on medical genomics, AFP is publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. This review discusses Klinefelter syndrome.
The word chromosome is derived from the Greek language: chroma (colour) and soma (body). Structure of the chromosome in relation to the phase of the cell cycle: Each metaphase chromosome is composed of 2 chromatids held together at the centromere. The chromosome is divided by a constriction, the centromere into 2 arms; short and long (p and q respectively).
Chromosomal Disorders Chromosomal disorders form a major category of genetic disease, accounting for a large proportion of reproductive wastage (early gestational abortions), congenital malformations, and intellectual disability. Cytogenetics is the term given to chromosome disorders, and they are classified using the International System for Human Cytogenetic Nomenclature. During cell division in non–germ cells, the chromosomes replicate so that each cell receives a full diploid number. In…