15q24 microdeletion
Last updated 8 Sept 2020
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15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
Description
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other common signs and symptoms include short stature, weak muscle tone (hypotonia), and skeletal abnormalities including loose (lax) joints. Affected males may have genital abnormalities, which can include an unusually small penis (micropenis) and the opening of the urethra on the underside of the penis (hypospadias). Affected individuals also have distinctive facial features such as a high front hairline, broad eyebrows, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and a long, smooth space between the upper lip and nose (philtrum).
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Other names
15q24 deletion
15q24 microdeletion syndrome
Interstitial deletion of chromosome 15q24
Further reading and references
- 15q24 microdeletion; MedlinePlus, National Library of Medicine.
- Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M. Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. Am J Med Genet A. 2009 Dec;149A(12):2813-9. doi: 10.1002/ajmg.a.33097.
- Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, Anderson CE, Punnett HH, Thurston VC, Sweeney D, Vance GH. A report of three patients with an interstitial deletion of chromosome 15q24. Am J Med Genet A. 2005 Aug 15;137(1):65-71. doi: 10.1002/ajmg.a.30836.
- El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep;12(9):573-86. doi: 10.1097/GIM.0b013e3181eb9b4a.
- Klopocki E, Graul-Neumann LM, Grieben U, Tonnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr. 2008 Aug;167(8):903-8. doi: 10.1007/s00431-007-0616-7. Epub 2007 Oct 12.
- McInnes LA, Nakamine A, Pilorge M, Brandt T, Jimenez Gonzalez P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD. A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5.
- Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE. Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet. 2007 Mar 1;16(5):567-72. doi: 10.1093/hmg/ddm016. Epub 2007 Mar 14.
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