1p36 Deletion Syndrome

1p36

What is it about?

• It is a chromosome disorder.

Chromosomes are made up of DNA and are the structure in the nucleus of the body’s cells that carry genetic information (known as genes), telling the body how to develop and function.

Children inherit one copy of each of the 23 chromosomes from each parent, giving 46

chromosomes in each cell.

Chromosome 1 is the largest chromosome and represents about eight per cent of the total DNA in cells

Short arm (p)

Location of the deletion of the chromosome

• People with 1p36 deletion syndrome have lost a small but variable amount of genetic material from one of their 46 chromosomes.

Chromosome number

Background

1p36 deletion syndrome was described for the first time in the late

1990s, although the first case of a child with a deletion of 1p36 was

published in 1981.

WHY DO THIS HAPPEN?

Children with 1p36 deletion Syndrome

How is 1p36 Deletion Syndrome diagnosed?

FISH (fluorescent in-situ hybridization).

FISH is used to detect missing pieces of chromosome material that are too small to be seen with a microscope during routine chromosome analysis.

Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occur before fertilization during the formation during the formation of gametes (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.

microarray CGH (Comparative Genomic Hybridization)

A microarray analysis compares a person’s DNA to “control DNA”.

So there is nothing that either parent did before or during pregnancy that

caused the deletion to occur.

It is estimated that 1p36 Deletion Syndrome affects in one in every 5,000 to 10,000 newborns, though many individuals still go undiagnosed.

1p36 Deletion

Syndrome

Characteristics, Signs and Symptoms

Characteristics, Signs and Symptoms

Treatment

There is currently no cure for the disorder and efforts are directed at relieving symptoms.

Low muscle tone (congenital hypotonio)

Seizure disorder

Characteristic physical features

Developmental delay

Intellectual disability

Congenital malformations

Cardiomyopath

Hearing loss

Vision or eye problems

Thyroid problems

Behavior problems

Rare complications

As most people with this disorder experience symptoms from several organs it may be necessary to see several different specialists. Such visits will involve the examination and monitoring of the affected organs.

Prognosis

Habilitation

The severity of the 1p36 deletion syndrome varies between affected individuals. Seizures and other medical issues seem to improve with time. Patients will remain dependent of others for most activities of daily living and will require medical support throughout life. Individuals with 1p36 deletion syndrome survive well into adult life.

Habilitation measures focus on existing needs, may vary over time and occur in collaboration with individuals close to the child.

Augmentative and alternative communication (AAC), a collective name for non-verbal forms of communication, should be made available from an early age.

Many children require contact with a speech therapist for assessment and to stimulate the development of language and communication skills as well as oral motor skills.

This can include the use of signs or pictures, depending on the child’s level of intellectual development.

SOURCES

http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNW.pdf

http://www.medicinenet.com/1p36_deletion_syndrome/page3.htm

http://www.1p36dsa.org/