What is a Subtelomeric region?

What is a Subtelomeric region?

Subtelomeres are segments of DNA between telomeric caps and chromatin. Subtelomeres are considered to be the most distal (farthest from the centromere) region of unique DNA on a chromosome, and they are unusually dynamic and variable mosaics of multichromosomal blocks of sequence.

What causes micro deletion?

5q31. 3 microdeletion syndrome is caused by a chromosomal change in which a small piece of chromosome 5 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q31. 3.

What is 9q deletion?

Summary. Listen. Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.

Which disorder is caused by a deletion?

DiGeorge syndrome, more accurately known by a broader term — 22q11. 2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.

What chromosome is Subtelocentric?

A chromosome whose centromere lies between its middle and its end but closer to the end.

What is Pericentromeric?

Adjective. pericentromeric (comparative more pericentromeric, superlative most pericentromeric) (genetics) Situated near, or on each side of, the centromere of a chromosome.

Is micro deletion a disability?

15q13. 3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features.

Is Microdeletion a disability?

Microdeletion is considered to be one of the prenatal causes of intellectual disability. Other prenatal causes include central nervous system infections, exposure to radiation, maternal use of various substances and drugs, as well as malnutrition.

Is Kleefstra syndrome a rare disease?

Kleefstra syndrome is a rare genetic condition that affects development and involves many body systems. People with Kleefstra syndrome usually have distinct facial features, developmental delay, intellectual disability, low muscle tone (hypotonia), and communication difficulties.

Is chromosome deletion a disability?

Chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability.

What are some examples of subtelomere disorders?

In humans, the role of subtelomere disorders is demonstrated in facioscapulohumeral muscular dystrophy (FSHD), Alzheimer’s disease, and peculiar syndromic diseases (malformation and mental retardation). For example, FSHD is associated with a deletion in the subtelomeric region of chromosome 4q.

What is the evolutionary advantage of subtelomeres?

Although subtelomeres are pseudogenes and do not code for protein, they provide an evolutionary advantage by diversifying genes. The duplication, recombination, and deletion of subtelomeres allow for the creation of new genes and new chromosomal properties.

What is the difference between telomeric DNA and subtelomeres?

Most vertebrate telomeric DNA consists of long ( T T A G G G )n repeats of variable length, often around 3-20kb. Subtelomeres are segments of DNA between telomeric caps and chromatin. Each chromosome has two subtelomeres immediately adjacent to the long (TTAGGG)n repeats.

What is a subtelomeric transcript?

Subtelomeric transcripts are pseudogenes (transcribed genes producing RNA sequences not translated into protein) and gene families. In humans, they code for olfactory receptors, immunoglobulin heavy chains, and zinc-finger proteins.