Q93.4: Deletion of short arm of chromosome 5

One of your chromosomes is missing a piece.

Somatic cells usually hold a complete blueprint of your body. This blueprint consists of genetic information. The genetic information is encrypted in the chromosomes. In humans, somatic cells usually have 23 pairs of chromosome, so 46 chromosomes in all. There are two different types of chromosomes. They are autosomes and sex chromosomes. There are 22 pairs of autosomes per somatic cell, and the 2 remaining chromosomes are the sex chromosomes.

With this type of disorder, a piece of the 5th autosome has become detached and gone missing. So the genetic information is incomplete. If a piece of the 5th autosome is missing it may indicate cri du chat, or cat's cry, syndrome. This disorder is also known as 5p minus syndrome.

5p minus syndrome can take different forms. The crying of affected babies is typically high-pitched, like the miaowing of a cat. This is where the disorder gets its name from. Typical of the condition are also certain characteristics of the head and face. These include, for example, the eyes being further apart and deep-lying ears. The circumference of the head is usually smaller than usual. Physical and mental abilities may be limited. There can also be finger or heart deformities.