Potocki-Shaffer Syndrome: Causes, Symptoms & Treatment

Potocki-Shaffer syndrome is a skeletal malformation syndrome characterized by exostoses, often intelligence deficiency, and craniofacial abnormalities. It is caused by a deletion of genes in locus 11p11.2 on chromosome 11. Treatment is purely symptomatic supportive and limited to measures such as early intervention. What is Potocki-Shaffer syndrome? Monosomies are variants of genomic mutation in which … Potocki-Shaffer Syndrome: Causes, Symptoms & Treatment

Chromosome mutation

Definition – What is meant by a chromosomal mutation? The human genome, i.e. the totality of genes, is divided into chromosomes. Chromosomes are very long DNA chains that can be distinguished from each other in the metaphase of cell division. The genes are arranged on the chromosomes in a fixed order. In the case of … Chromosome mutation

What is a chromosomal aberration? | Chromosome mutation

What is a chromosomal aberration? Chromosomal aberration is a change in the chromosomes that is visible under the light microscope. In contrast, there are gene mutations, these changes are much smaller and can only be detected by more precise genetic diagnostics. Chromosomal aberrations can be divided into two forms. There are structural and numerical aberrations. … What is a chromosomal aberration? | Chromosome mutation