5q minus syndrome

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What is 5q minus syndrome?

5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cell fragments involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets.

MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.

How common is 5q minus syndrome?

MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women.

What are the genetic changes related to 5q minus syndrome?

5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature blood cells during a person's lifetime and affects one of the two copies of chromosome 5 in each cell.

The commonly deleted region of DNA contains 40 genes, many of which play a critical role in normal blood cell development. Research suggests that loss of multiple genes in this region contributes to the features of 5q- syndrome. Loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells. Scientists are still determining how the loss of other genes in the deleted region might be involved in the features of 5q- syndrome.

Read more about the MIR145, MIR146A, and RPS14 genes and chromosome 5.

Can 5q minus syndrome be inherited?

This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family.

Where can I find information about diagnosis or management of 5q minus syndrome?

These resources address the diagnosis or management of 5q minus syndrome and may include treatment providers.

You might also find information on the diagnosis or management of 5q minus syndrome inEducational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about 5q minus syndrome?

You may find the following resources about 5q minus syndrome helpful. These materials are written for the general public.

MedlinePlus - Health information
Additional NIH Resources - National Institutes of Health (2 links)
Educational resources - Information pages (4 links)
Patient support - For patients and families (3 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Genetic Testing Registry - Repository of genetic test information (1 link)
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
OMIM - Genetic disorder catalog

What other names do people use for 5q minus syndrome?

5q- syndrome
chromosome 5q deletion syndrome
myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
myelodysplastic syndrome with 5q deletion
myelodysplastic syndrome with 5q deletion syndrome
refractory macrocytic anemia due to 5q deletion

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about 5q minus syndrome?

Ask the Genetic and Rare Diseases Information Center

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding 5q minus syndrome?

acute ; acute myeloid leukemia ; AML ; anemia ; blood clotting ; bone marrow ; cancer ; cell ;chromosome ; chronic ; clotting ; deletion ; DNA ; gene ; inherited ; leukemia ; Mb ; mutation ;myelodysplastic syndrome ; myeloid ; pallor ; pharmacogenomics ; platelets ; progression ;red blood cell ; somatic mutation ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook