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12q14 microdeletion syndrome


Other Names:
Osteopoikilosis-short stature-intellectual disability syndrome; Del(12)(q14); Deletion 12q14; Osteopoikilosis-short stature-intellectual disability syndrome; Del(12)(q14); Deletion 12q14; Monosomy 12q14 See More
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12q14 microdeletion syndrome is a genetic syndrome caused by a missing piece of chromosome 12. The signs and symptoms depend on the size of the missing piece and the genes involved, but generally include growth delay, short stature and feeding difficulties. When this syndrome is inherited, it is passed on in a dominant pattern. It can be diagnosed through a genetic test, either a chromosomal microarray or whole exome sequencing.[1][2][3]
Last updated: 12/5/2018
The signs and symptoms of 12q14 microdeletion syndrome can be different from person to person depending on the size of the missing piece of chromosome and the genes involved.[2][4] In general, people with this syndrome have growth delay that starts before they are born, short stature, and poor weight gain. They may have feeding difficulties, speech and developmental delay, and mild intellectual disability. Some people with this syndrome have a triangular shaped face and a large forehead. Many have small areas of increased bone density that show up as bright spots on x-rays, a condition called osteopoikilosis.[2] Osteopoikilosis does not cause pain or other symptoms.
  
It has been suggested 12q14 microdeletions that include the HMGA2 gene cause some cases of Russell-Silver syndrome, because people with Russell-Silver syndrome and people with 12q14 microdeletion syndromes have similar signs and symptoms.[1]

Last updated: 12/5/2018
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.[1][2][4] 
Last updated: 12/5/2018
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.[2][4]
Last updated: 12/5/2018
There is no specific treatment for 12q14 microdeletion syndrome. Growth problems may be treated with growth hormone therapy.[4] If developmental delay or an intellectual disability is present, early educational intervention and early services can be helpful.
Last updated: 12/5/2018
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.[1][4] Therefore more research needs to be done to understand how this microdeletion may affect a person.
Last updated: 12/5/2018
This is a rare syndrome and the prevalence is thought to be less than 1 in 1,000,000 worldwide.[3]
Last updated: 12/5/2018

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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 12q14 microdeletion syndrome.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss 12q14 microdeletion syndrome. Click on the link to view a sample search on this topic.

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  1. 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. https://www.ncbi.nlm.nih.gov/pubmed/29655892.
  2. 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:https://www.ncbi.nlm.nih.gov/pubmed/28407409.
  3. 12q14 microdeletion syndrome. Orphanet. 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063. Accessed 12/5/2018.
  4. 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. https://www.ncbi.nlm.nih.gov/pubmed/29501611.