Merck Manual

Please confirm that you are a health care professional

honeypot link

Microdeletion and Microduplication Syndromes

By

Nina N. Powell-Hamilton

, MD, Sidney Kimmel Medical College at Thomas Jefferson University

Last full review/revision Jun 2020| Content last modified Jun 2020
Click here for Patient Education
Topic Resources

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 syndromes are better defined than are microduplication syndromes, and the significance of many microduplications is still unclear. The reciprocal duplications of well-recognized microdeletions such as 22q11.2 and 7q11.23 have been more clearly defined in recent years.

Microdeletion syndromes differ from chromosomal deletion syndromes Chromosomal Deletion Syndromes Chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability. Specific chromosomal... read more in that chromosomal deletion syndromes are usually visible on karyotyping because of their larger size (typically > 5 megabases), whereas the abnormalities in microdeletion syndromes involve smaller segments (typically 1 to 3 megabases) and are detectable only with fluorescent probes (fluorescent in situ hybridization) and chromosomal microarray analysis. A given gene segment can be deleted and duplicated (termed a reciprocal duplication). The clinical effects of microscopic reciprocal duplications tend to be similar but less severe than those of deletions involving the same segment. The term contiguous gene syndrome typically refers to a condition that is commonly associated with microdeletions but that can also be associated with microduplications in which genes are clustered together. (See also Next-generation sequencing technologies Genetic Diagnostic Technologies Genetic diagnostic technology is rapidly improving. A small amount of DNA can be amplified using the polymerase chain reaction (PCR) process, which can produce millions of copies of a gene or... read more .)

Most clinically significant microdeletions and microduplications seem to occur sporadically; however, mildly affected parents may be diagnosed when parental testing is done after a child is found to have an abnormality.

Reciprocal microduplication involving chromosome 17p11.2 is associated with Potocki-Lupski syndrome. Infants with this disorder have hypotonia, feeding problems, failure to thrive, heart defects, developmental delay, and autism.

Table
icon
Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
Professionals also read

Test your knowledge

Mumps
Mumps is an acute, contagious, systemic viral disease caused by a paramyxovirus. It is spread by droplets or saliva and probably enters through the nose and mouth. After a 12- to 24-day incubation period, headache, anorexia, malaise, and low-grade fever usually develop. Then several other symptoms develop over the next few days. Of these symptoms, edema of which of the following structures is most likely to peak on the 2nd day and typically last 5 to 7 days? 
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID

Also of Interest

Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
TOP