with annotated bands and sub-bands as used for the
nomenclature of chromosome abnormalities. It shows dark and white regions as seen on
G banding. Each row is vertically aligned at
centromere level. It shows 22
homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two
sex chromosomes, as well as the
mitochondrial genome (at bottom left). • P –
Point mutation, or any insertion/deletion entirely inside one
gene • D –
Deletion of a gene or genes • Dup -
Duplication of a gene or genes • C – Whole chromosome extra, missing, or both (see
chromosome abnormality) • T –
Trinucleotide repeat disorders: gene is extended in length can be found in several disorders, like
Carpenter Syndrome ==Full genetic disorders list==