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Chromosome 15q24 microdeletion syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2012
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (68th percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

Mentioned by

twitter
2 tweeters

Citations

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29 Dimensions

Readers on

mendeley
108 Mendeley
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2 CiteULike
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Title
Chromosome 15q24 microdeletion syndrome
Published in
Orphanet Journal of Rare Diseases, January 2012
DOI 10.1186/1750-1172-7-2
Pubmed ID
Authors

Pilar L Magoulas, Ayman W El-Hattab

Abstract

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small mouth, long smooth philtrum, and full lower lip. Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and obesity. Congenital malformations, while rare, can be severe and include structural brain anomalies, cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele. Karyotypes are typically normal, and the deletions were detected in these individuals by array comparative genomic hybridization (aCGH). The deletions range in size from 1.7-6.1 Mb and usually result from nonallelic homologous recombination (NAHR) between paralogous low-copy repeats (LCRs). The majority of 15q24 deletions have breakpoints that localize to one of five LCR clusters labeled LCR15q24A, -B, -C, -D, and -E. The smallest region of overlap (SRO) spans a 1.2 Mb region between LCR15q24B to LCR15q24C. There are several candidate genes within the SRO, including CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK, that may predispose to many of the clinical features observed in individuals with 15q24 deletion syndrome. The deletion occurred as a de novo event in all of the individuals when parents were available for testing. Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling and guidance regarding prognosis, recurrence risk, and reproductive options. Management involves a multi-disciplinary approach to care with the primary care physician and clinical geneticist playing a crucial role in providing appropriate screening, surveillance, and care for individuals with this syndrome. At the time of diagnosis, individuals should receive baseline echocardiograms, audiologic, ophthalmologic, and developmental assessments. Growth and feeding should be closely monitored. Other specialists that may be involved in the care of individuals with 15q24 deletion syndrome include immunology, endocrine, orthopedics, neurology, and urology. Chromosome 15q24 microdeletion syndrome should be differentiated from other genetic syndromes, particularly velo-cardio-facial syndrome (22q11.2 deletion syndrome), Prader-Willi syndrome, and Noonan syndrome. These conditions share some phenotypic similarity to 15q24 deletion syndrome yet have characteristic features specific to each of them that allows the clinician to distinguish between them. Molecular genetic testing and/or aCGH will be able to diagnose these conditions in the majority of individuals. DISEASE NAME AND SYNONYMS: Chromosome 15q24 deletion syndrome. 15q24 deletion syndrome. 15q24 microdeletion syndrome.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 108 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 <1%
Turkey 1 <1%
Iceland 1 <1%
Italy 1 <1%
Unknown 104 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 17 16%
Student > Ph. D. Student 15 14%
Researcher 14 13%
Student > Bachelor 9 8%
Student > Doctoral Student 9 8%
Other 27 25%
Unknown 17 16%
Readers by discipline Count As %
Medicine and Dentistry 41 38%
Agricultural and Biological Sciences 14 13%
Biochemistry, Genetics and Molecular Biology 8 7%
Psychology 4 4%
Nursing and Health Professions 3 3%
Other 11 10%
Unknown 27 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 January 2012.
All research outputs
#1,783,919
of 4,507,509 outputs
Outputs from Orphanet Journal of Rare Diseases
#346
of 775 outputs
Outputs of similar age
#67,927
of 234,935 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#4
of 13 outputs
Altmetric has tracked 4,507,509 research outputs across all sources so far. This one has received more attention than most of these and is in the 58th percentile.
So far Altmetric has tracked 775 research outputs from this source. They receive a mean Attention Score of 3.4. This one has gotten more attention than average, scoring higher than 51% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 234,935 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.