Microdeletions are chromosomal abnormalities that can (but don't always) cause health problems. By detecting them in prenatal tests, you can prepare before birth.

A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).

Loss of genetic material from the genome is known as a deletion (a type of copy number variant). Deletions can vary in size, and if a deletion is too small to be seen under a microscope, it is called a microdeletion.

Microdeletion and microduplication syndromes are disorders caused by submicroscopic deletions or duplications of contiguous genes on particular parts of chromosomes. Postnatal diagnosis is suspected by clinical appearance and preferably confirmed by chromosomal microarray analysis or by fluorescent in situ hybridization.

Microdeletion is an abnormality that occurs when a piece of a chromosome is missing. This is exactly what it looks like: micro (tiny), deletion (taken away). Almost all of our cells contain chromosomes with DNA.

Microdeletions, or submicroscopic deletions, are chromosomal deletions that are too small to be detected by light microscopy using conventional cytogenetic methods. Specialized testing is needed to identify these deletions.

What Are Microdeletion Syndromes? Microdeletion syndromes arise when there is a loss of a small segment of a chromosome, affecting several genes located within that segment. This genetic loss can disrupt the normal functioning of these genes, leading to …

Microdeletions represent a unique group of genetic disorders that can have a significant impact on an individual's health and development. While each microdeletion and microduplication syndrome is rare on its own, when considered together, they are actually quite common.

Microdeletion syndromes, also known as contiguous gene deletion syndromes, result from deletions of multiple, functionally unrelated, yet physically contiguous, genes that are compatible with viability in the heterozygous condition.

Chromosomal microdeletion syndromes are those caused by chromosomal deletions involving several genes. Chromosomal deletion occurs when parts of a chromosome (of which each cell of the body has 46, 23 pairs) are missing or deleted.