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Cri du Chat syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2006
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (96th percentile)

Mentioned by

news
1 news outlet
blogs
2 blogs
twitter
6 tweeters
wikipedia
7 Wikipedia pages
video
1 video uploader

Citations

dimensions_citation
135 Dimensions

Readers on

mendeley
290 Mendeley
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Title
Cri du Chat syndrome
Published in
Orphanet Journal of Rare Diseases, September 2006
DOI 10.1186/1750-1172-1-33
Pubmed ID
Authors

Paola Cerruti Mainardi

Abstract

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability. The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase (hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 290 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 2 <1%
Canada 1 <1%
Brazil 1 <1%
Italy 1 <1%
Sri Lanka 1 <1%
Spain 1 <1%
Portugal 1 <1%
United States 1 <1%
Unknown 281 97%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 75 26%
Student > Master 34 12%
Researcher 32 11%
Student > Ph. D. Student 27 9%
Student > Postgraduate 17 6%
Other 55 19%
Unknown 50 17%
Readers by discipline Count As %
Medicine and Dentistry 91 31%
Biochemistry, Genetics and Molecular Biology 45 16%
Agricultural and Biological Sciences 44 15%
Psychology 12 4%
Nursing and Health Professions 11 4%
Other 30 10%
Unknown 57 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 34. 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 11 August 2021.
All research outputs
#796,360
of 18,846,561 outputs
Outputs from Orphanet Journal of Rare Diseases
#67
of 2,014 outputs
Outputs of similar age
#3,885
of 109,195 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 4 outputs
Altmetric has tracked 18,846,561 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,014 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one has done particularly well, scoring higher than 96% 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 109,195 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them