Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Catherine Yang
 + 215 word(s) 215 2020-12-15 07:13:29 |
2 format correct
Catherine Yang
 + 110 word(s) 325 2020-12-23 03:37:44 |

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yang, C. 15q24 Microdeletion. Encyclopedia. Available online: https://encyclopedia.pub/entry/3769 (accessed on 16 April 2024).
Yang C. 15q24 Microdeletion. Encyclopedia. Available at: https://encyclopedia.pub/entry/3769. Accessed April 16, 2024.
Yang, Catherine. "15q24 Microdeletion" Encyclopedia, https://encyclopedia.pub/entry/3769 (accessed April 16, 2024).
Yang, C. (2020, December 22). 15q24 Microdeletion. In Encyclopedia. https://encyclopedia.pub/entry/3769
Yang, Catherine. "15q24 Microdeletion." Encyclopedia. Web. 22 December, 2020.
15q24 Microdeletion
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/15q24-microdeletion

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.

genetic conditions

1. Introduction

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).

2. Frequency

This condition is very rare; only a few dozen affected individuals have been identified.

3. Causes

People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (base pairs), also written as 1.7-6.1 megabases (Mb), at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes that are thought to be important for normal development.

The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in the deleted region. However, it is unclear which missing genes contribute to the specific features of the disorder.

3.1. The chromosome associated with 15q24 microdeletion

  • chromosome 15

4. Inheritance

The identified cases of 15q24 microdeletion have occurred in people with no history of the condition in their family. The chromosomal change likely occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

5. Other Names for This Condition

  • 15q24 deletion

  • 15q24 microdeletion syndrome

  • interstitial deletion of chromosome 15q24

References

  1. 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-HanuS, Holder-Espinasse M. Genotype-phenotype correlation in four 15q24 deletedpatients identified by array-CGH. Am J Med Genet A. 2009 Dec;149A(12):2813-9.doi: 10.1002/ajmg.a.33097.
  2. Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, AndersonCE, Punnett HH, Thurston VC, Sweeney D, Vance GH. A report of three patients withan interstitial deletion of chromosome 15q24. Am J Med Genet A. 2005 Aug15;137(1):65-71. Review.
  3. 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: molecularmechanisms and potential modification by additional copy number variants. GenetMed. 2010 Sep;12(9):573-86. doi: 10.1097/GIM.0b013e3181eb9b4a.
  4. Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, MundlosS, Ullmann R. A further case of the recurrent 15q24 microdeletion syndrome,detected by array CGH. Eur J Pediatr. 2008 Aug;167(8):903-8.
  5. McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M,Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD. Alarge-scale survey of the novel 15q24 microdeletion syndrome in autism spectrumdisorders identifies an atypical deletion that narrows the critical region. MolAutism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5.
  6. 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, deVries BB, Zuffardi O, Eichler EE. Characterization of a recurrent 15q24microdeletion syndrome. Hum Mol Genet. 2007 Mar 1;16(5):567-72.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Catherine Yang
View Times: 543
Entry Collection: MedlinePlus
Revisions: 2 times (View History)
Update Date: 26 Aug 2021
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback