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12q14 microdeletion syndrome

From Encyclopedia & World Directory

Alternate names

Osteopoikilosis-short stature-intellectual disability syndrome; Del(12)(q14); Deletion 12q14; Monosomy 12q14

Definition

12q14 microdeletion syndrome is a genetic syndrome caused by a missing piece of chromosome 12. The chromosomal range of the deletions extends from 12q13.3q15.[1].

Epidemiology

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

Inheritance

Autosomal dominant pattern, a 50/50 chance.
  • 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.

Signs and symptoms

  • 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.
  • 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.
  • 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.

Diagnosis

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.

Treatment

Prognosis

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.

References

  1. Lynch, S. A., Foulds, N., Thuresson, A. C., Collins, A. L., Annerén, G., Hedberg, B. O., Delaney, C. A., Iremonger, J., Murray, C. M., Crolla, J. A., Costigan, C., Lam, W., Fitzpatrick, D. R., Regan, R., Ennis, S., & Sharkey, F. (2011). The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. European journal of human genetics : EJHG, 19(5), 534–539. https://doi.org/10.1038/ejhg.2010.215


NIH genetic and rare disease info

12q14 microdeletion syndrome is a rare disease.


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