Source: Karyotype; Public Domain: http://en.wikipedia.org/wiki/File:NHGRI_human_male_karyotype.png Other image created by Nathan Lampson
When part of a chromosome is deleted; sometimes it may not have any effect while other times it does.
A genetic disorder caused by the deletion of a section of the 5th chromosome; cri-du-chat is French for “cry of the cat”. Cri-du-chat causes physical and cognitive abnormalities.
A chromosome abnormality that occurs when nonhomologous parts rearrange and fuse together.
Sequences of nucleotides are repeated multiple times, they haven’t been linked to disorders, but have been linked to cancers.
Looking at the number of chromosomes and their characteristics under a microscope, this is a critical tool in assessing genetic disorders in a developing embryo.