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Genetic and Rare Diseases Information Center (GARD)

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2q37 deletion syndrome

Other Names for this Disease
  • Albright hereditary osteodystrophy-like syndrome
  • Brachydactyly-Mental Retardation syndrome
  • Chromosome 2q37 deletion syndrome
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Your Question

My niece has 2q37 deletion syndrome. I was wondering what causes it and if it can be a hidden trait.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are chromosomes?

Chromosomes are the structures that hold our DNA. Our DNA contains the instructions, called genes, which tell our bodies how to develop and function. Humans have 23 pairs of chromosomes, so 46 in total. One of each pair is inherited from our mother and the other from our father. Click here to view an illustration of a chromosome and DNA.[1]

Chromosomes vary in size. Each chromosome has a constriction point, called the point, called the centromere, which divides it into two sections. The shorter arm is called the p arm, and the longer arm is called the q arm.[1] To read more about chromosomes, click here.
Last updated: 7/7/2011

What does 2q37 deletion syndrome mean?

A deletion involves losing part of a chromosome and is sometimes known as a partial monosomy. Deletions can occur in any part of any chromosome, and there can be one or two breaks in the chromosome. When there is just one break in the chromosome, the deletion is called a terminal deletion because the end (or terminus) of the chromosome is missing. When the missing piece is closer towards the end of the chromosome, it is called a distal deletion.[2]

A deletion on 2q37 means that a segment on the long arm (q arm) of chromosome 2 at position 37 is missing or deleted. This is also called a terminal deletion and/or distal deletion.
Last updated: 7/7/2011

What is 2q37 deletion syndrome?

2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.[3]
Last updated: 7/7/2011

What are the signs and symptoms of 2q37 deletion syndrome?

Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of those with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals can also have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia.[3]

Unique is a source of information and support to families and individuals affected by rare chromosome disorders. On their Web site, they have a pamphlet that provides additional information on the signs and symptoms of 2q37 deletion syndrome. Click on the link below to view this information.
Last updated: 7/7/2011

What causes 2q37 deletion syndrome?

2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region.[3]
Last updated: 7/7/2011

How is 2q37 deletion syndrome inherited? Can it be a hidden trait?

Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.[3]

Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.[3]
Last updated: 7/7/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013