12q14 microdeletion syndrome

How is 12q14 microdeletion syndrome diagnosed?

12q14 microdeletion syndrome can be diagnosed through genetic testing, either a chromosomal microarray test or whole exome sequencing. Both tests can determine the size of the microdeletion and which genes are missing.

Last updated on 05-01-20

How is 12q14 microdeletion syndrome inherited?

12q14 microdeletion syndrome can be inherited in families in an autosomal dominant pattern. This means that a parent who has this deletion has a 50-50 or 1 in 2 chance of passing it on to each of his or her children.

In some cases, this deletion occurs for the first time in a person (de novo), and is not inherited from a parent.

Last updated on 05-01-20

What is the long-term outlook for people with 12q14 microdeletion syndrome?

There is little published information about the long-term outlook for people with 12q14 microdeletion syndrome. In general, quality of life and possible medical complications likely depends on the type and severity of the signs and symptoms a person has. Several adults were found to have a 12q14 microdeletion who were healthy and without other symptoms of 12q14 microdeletion. Therefore more research needs to be done to understand how this microdeletion may affect a person.

Last updated on 05-01-20

How many people have 12q14 microdeletion syndrome?

This is a rare syndrome and the prevalence is thought to be less than 1 in 1,000,000 worldwide.

Last updated on 05-01-20

How might 12q14 microdeletion syndrome be treated?

There is no specific treatment for 12q14 microdeletion syndrome. Growth problems may be treated with growth hormone therapy. If developmental delay or an intellectual disability is present, early educational intervention and early services can be helpful.

Last updated on 05-01-20

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Name: ClinicalTrials.gov Url: https://clinicaltrials.gov/ct2/show/NCT01793168
Leszinski GS, Warncke K, Hoefele J, Wagner M. A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome Gene. Jul 2018; 663. 110-114. Reference Link Fischetto R, Palumbo O, Ortolani F, Palumbo P, et al. Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature AM J Med Genet A. Apr 2017; ajmg.a.38253. Reference Link 12q14 microdeletion syndrome Orphanet. 2014; Reference Link Heldt F, Wallaschek H, Ripperger T, Morlot S, et al. 12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature Eur J Med Genet. Mar 2018; s1769-7212(17). 30479-2. Reference Link

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