What are some disorders associated with chromosomes?

Some chromosomal abnormalities occur when there is an extra chromosome, while others occur when a section of a chromosome is deleted or duplicated. Examples of chromosomal abnormalities include Down syndrome, Trisomy 18, Trisomy 13, Klinefelter syndrome, XYY syndrome, Turner syndrome and triple X syndrome.

What diseases are caused by chromosome 11?

The following diseases and disorders are some of those related to genes on chromosome 11:

• autism (neurexin 1)
• acute intermittent porphyria.
• albinism.
• ataxia–telangiectasia.
• Beckwith–Wiedemann syndrome.
• Best’s disease.
• beta-ketothiolase deficiency.
• beta thalassemia.

What is a chromosome disorder?

Chromosomal disorder, any syndrome characterized by malformations or malfunctions in any of the body’s systems, and caused by abnormal chromosome number or constitution.

What is 17q12 microdeletion syndrome?

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly …

What are the symptoms of chromosome 7q duplication syndrome?

Chromosome 7q Duplication Syndrome is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7 The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved

How can you tell if you have 7q36 syndrome?

To diagnose 7q36 syndrome, the chromosomes need to be analysed using high resolution banding, a technique that allows fine bands to be seen and small missing pieces to be identified.

What do you need to know about chromosome 7q?

Summary Summary. Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved.

Can a person with chromosome 7q have intellectual disability?

Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children.