16p12.2 microdeletion
Last updated 8 Sept 2020
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16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioural problems.
Description
16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioural problems.
Less common features that can occur in people with a 16p12.2 microdeletion can include hearing loss, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), dental abnormalities, malformed kidneys, and genital abnormalities in males. However, there is no particular pattern of physical abnormalities that characterizes individuals with a 16p12.2 microdeletion. Signs and symptoms related to the chromosomal change vary even among affected members of the same family, and some people with the deletion have no identified physical or behavioural abnormalities.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Other names
16p12.1 microdeletion
Chromosome 16p12.1 deletion syndrome, 520-kb
Further reading and references
- 16p12.2 microdeletion; MedlinePlus, National Library of Medicine.
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- Brisset S, Capri Y, Briand-Suleau A, Tosca L, Gras D, Fauret-Amsellem AL, Pineau D, Saada J, Ortonne V, Verloes A, Goossens M, Tachdjian G, Metay C. Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations. Eur J Med Genet. 2015 Sep;58(9):497-501. doi: 10.1016/j.ejmg.2015.07.001. Epub 2015 Jul 8.
- Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):118-29. doi: 10.1002/ajmg.c.31327. Epub 2012 Apr 12.
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- Smolen C, Myers S, Girirajan S. 16p12.2 Recurrent Deletion. 2015 Feb 26 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK274565/
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