What happens when you are missing chromosome 18?

What happens when you are missing chromosome 18?

Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted. The disorder is typically characterized by short stature, variable degrees of mental retardation, speech delays, craniofacial malformations, and/or additional physical abnormalities.

What are chromosome 18 characteristics?

Individuals with this chromosome abnormality often have intellectual disability, an unusually small head (microcephaly), widely spaced eyes (hypertelorism), low-set ears, and speech problems.

How is chromosome 18q deletion syndrome (18q deletion) diagnosed?

In some cases, chromosome 18q deletion syndrome may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS).

What is a chromosome 18 related disorder?

Related Disorders. Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted. The disorder is typically characterized by short stature, variable degrees of mental retardation, speech delays, craniofacial malformations, and/or additional physical abnormalities.

Can a child have the short arm of chromosome 18 deleted?

In addition, in some rare cases, a parent of an affected child has also had deletion of the short arm of chromosome 18 in all or some cells. (Cases in which only a percentage of an individual’s cells has the chromosomal abnormality while other cells have a normal chromosomal make-up are known as “mosaicism.”)

What is a deletion in the middle of the chromosome?

In some cases, the deletion could be interstitial; that is, in the middle of the chromosome. In addition, in some cases, only a certain percentage of an affected individual’s cells may have the deletion, while other cells may have a normal chromosomal makeup (a finding known as “chromosomal mosaicism”).