Users' questions

What is IP 36 deletion syndrome?

What is IP 36 deletion syndrome?

1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems.

What happens if you have an extra chromosome 10?

In most cases, chromosome 10, distal trisomy 10q is characterized by abnormally slow growth before and after birth. In addition, most affected infants and children have mild to severely diminished muscle tone (hypotonia). Some may have abnormal looseness or laxity of the joints (generalized hyperlaxity).

What is chromosome 10 deletion?

Chromosome 10p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved.

Where does the 10q26 deletion in chromosome 10 occur?

The exact size of the deletion varies, and it is unclear what exact region needs to be deleted to cause the condition. In many affected individuals, the 10q26 deletions include the tip of the q arm of chromosome 10; however, some smaller deletions occur within the arm of the chromosome.

How many DNA base pairs are missing in 10q26?

10q26 deletion syndrome is thought to be a rare condition; at least 100 cases have been described in the scientific literature. People with a 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks (base pairs), also written as 3.5-17 megabases (Mb), at position q26 on chromosome 10.

When does chromosome 10p have an extra copy?

Chromosome 10p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the duplication and which genes are involved.

Where are the genes located on chromosome 10q?

The numbered bands specify the location of the thousands of genes that are present on each chromosome. The duplication of the distal portion of chromosome 10q is responsible for the symptoms and physical features that characterize this disorder.