15q24 deletion syndrome

Overview

How many people have 15q24 microdeletion syndrome?

The exact amount of people who have 15q24 microdeletion syndrome is not known, but it is believed that 1 in 42, 000 individuals in the general population have this condition. The rate of 15q24 microdeletion syndrome in individuals with autism spectrum disorder is predicted to be higher at 1-2 in 1000 individuals (or 0.1-0.2%).

As of February 23rd, 2016, 33 people with this rare condition have been described in the medical literature.

References
  • Unique. (2012). 15q24 microdeletion syndrome. Retrieved from http://www.rarechromo.org/information/Chromosome 15/15q24 microdeletion syndrome FTNW.pdf
  • McInnes, L. A., Nakamine, A., Pilorge, M., Brandt, T., Jiménez González, P., Fallas, M., ? Buxbaum, J. D. (2010). A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Molecular Autism, 1(1), 5. http://doi.org/10.1186/2040-2392-1-5
  • Magoulas, P. L., & El-Hattab, A. W. (2012). Chromosome 15q24 microdeletion syndrome. Orphanet Journal of Rare Diseases, 7(1), 2. http://doi.org/10.1186/1750-1172-7-2
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Are there more males then females that have 15q24 microdeletion syndrome?

What is 15q microduplication syndrome?

What is 15q24 microdeletion syndrome?

What is 15q24 microdeletion syndrome called most often by doctors?

Are there other names for 15q24 microdeletion syndrome?

Are there more males then females that have 15q24 microdeletion syndrome?

Although males and females should be affected equally by this condition, 76% of known cases of 15q24 microdeletion syndrome are males (there are 33 known cases as of February 23rd, 2016).

The reason for the higher percentage of males is not yet clear, but could be due to the small sample size of reported cases or a higher referral rate of boys who have been diagnosed due to unusual genital findings, a finding which can be seen in males with 15q24 microdeletion syndrome.

References
  • McInnes, L. A., Nakamine, A., Pilorge, M., Brandt, T., Jiménez González, P., Fallas, M., ? Buxbaum, J. D. (2010). A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Molecular Autism, 1(1), 5. http://doi.org/10.1186/2040-2392-1-5
  • Magoulas, P. L., & El-Hattab, A. W. (2012). Chromosome 15q24 microdeletion syndrome. Orphanet Journal of Rare Diseases, 7(1), 2. http://doi.org/10.1186/1750-1172-7-2
  • Mefford H, Shur N, Rosenfeld J. 15q24 Microdeletion Syndrome. 2012 Feb 23. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK84258/
  • Unique. (2012). 15q24 microdeletion syndrome. Retrieved from http://www.rarechromo.org/information/Chromosome 15/15q24 microdeletion syndrome FTNW.pdf
What is 15q microduplication syndrome?

People with 15q24 microduplication syndrome share clinical features with 15q24 microdeletion syndrome patients. Patients with 15q24 microduplication for example, have been described with features such as developmental delay, hand and genital findings (such as hypospadias- which is where the opening of the urethra is on the underside of the penis, instead of at the tip). In addition, patients have been described with eye features similar to 15q24 microdeletion syndrome, such as hypertelorism (increased distance between the eyes), thinck eyelids, and down-slanting palpebral fissures (the space between the eyelids).

References
  • Kiholm Lund, A.-B., Hove, H. D., Kirchhoff, M. A. 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. Europ. J. Med. Genet. 51: 520-526, 2008. [PubMed: 18755302]
  • El-Hattab, A. W., Smolarek, T. A., Walker, M. E., Schorry, E. K., Immken, L. L., Patel, G., Abbott, M.-A., Lanpher, B. C., Ou, Z., Kang, S.-H. L., Patel, A., Scaglia, F., Lupski, J. R., Cheung, S. W., Stankiewicz, P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum. Genet. 126: 589-602, 2009. [PubMed: 19557438]
What is 15q24 microdeletion syndrome?

People with 15q24 microdeletion syndrome are missing a small amount of material on the 15th chromosome, which can affect their learning and physical development. The most common findings in 15q24 microdeletion syndrome include developmental delay and childhood hypotonia (low muscle tone leading to floppiness). Children and adults with this rare condition may also have typical facial features such as a high forehead and microcephally (small head), as well as changes to the structure of the hands and feet.

References
  • Mefford H, Shur N, Rosenfeld J. 15q24 Microdeletion Syndrome. 2012 Feb 23. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK84258/
  • 15q24 microdeletion syndrome. (2012). Retrieved from http://www.rarechromo.org/information/Chromosome 15/15q24 microdeletion syndrome FTNW.pdf
What is 15q24 microdeletion syndrome called most often by doctors?

Doctors most usually refer to this condition as "15q24 microdeletion syndrome".

References
  • 15q24 microdeletion syndrome. (2012). Retrieved from http://www.rarechromo.org/information/Chromosome 15/15q24 microdeletion syndrome FTNW.pdf
Are there other names for 15q24 microdeletion syndrome?

Other names for 15q24 microdeletion syndrome include: 15q24 microdeletion, 15q24 deletion and interstitial deletion of chromosome 15q24.

References
  • Genetics Home Reference. (2011). 15q24 microdeletion. Retrieved January 15, 2016, from http://ghr.nlm.nih.gov/condition/15q24-microdeletion

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