Chromosome 1p36 deletion syndrome

Causes

What is the difference between a terminal chromosome 1p36 microdeletion and an interstitial chromosome 1p36 deletion?

Chromosome 1p36 deletion occurs when a piece of genetic material is missing or deleted. In this disorder, the missing piece is on chromosome number 1. There is a difference between a terminal and interstitial chromosome 1p36 microdeletion. Terminal means end. This type of deletion goes all the way to one end of the chromosome. An interstitial deletion does not affect the end of the chromosome. It affects the inner part of the chromosome. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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What important genes (genetic instructions) on chromosome 1p36 can lead to medical concerns seen in chromosome 1p36 microdeletion syndrome?

How does having a chromosome 1p36 deletion cause chromosome 1p36 microdeletion syndrome?

What important genes (genetic instructions) on chromosome 1p36 can lead to medical concerns seen in chromosome 1p36 microdeletion syndrome?

Some of the genes that may be deleted in chromosome 1p36 deletion syndrome are: MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1. These genes have many different functions. MMP23B is involved in skull formation. GABRD is involved in brain development. SKI is involved in brain development, skeletal development, and heart development. PRDM16 is involved in heart rhythm problems. KCNAB2 is involved in seizures. RERE is involved in brain, heart, kidney, eye, and other organ development. UBE4B is involved in heart development. CASZI Is involved in heart development. PDPN is involved in heart development. SPEN is involved in heart and brain development. ECE1 is involved in heart and facial development. HSPG2 is involved in skeletal and heart development. LUZP1 is involved in heart, brain, and facial development. Talk to a genetic counselor to learn more about the functions of these genes. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

How does having a chromosome 1p36 deletion cause chromosome 1p36 microdeletion syndrome?

Genes are instructions that tell our bodies how to grow and develop. They are packaged onto structures called chromosomes. Everyone has two copies of each chromosome. One copy is inherited from your mother and one copy is inherited from your father. Because everyone has two copies of chromosome 1, everyone has two copies of each gene on chromosome 1. When someone has chromosome 1p36 microdeletion syndrome, they are missing some of the genes on one copy of chromosome 1. They only have one copy of each gene in this region instead of the normal two. The genes on this part of chromosome 1 have many important roles in the body. When these genes are deleted, the body is missing some of its instructions. This causes health problems. The types of problems depend on which genes are deleted and what their roles are in development. Talk to a genetic counselor to learn more about the role of genes in the body. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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