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A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Overview of attention for article published in Molecular Cytogenetics, September 2011
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Title
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum
Published in
Molecular Cytogenetics, September 2011
DOI 10.1186/1755-8166-4-19
Pubmed ID
Authors

Meena Lall, Seema Thakur, Ratna Puri, Ishwar Verma, Mithali Mukerji, Pankaj Jha

Abstract

Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD). Deletion 1q44 (or Monosomy 1q44) is a well-defined syndrome, but there is controversy about the genes lying in 1q44 region, responsible for agenesis of the corpus callosum. We report a female child with the rare Partial Trisomy 11q syndrome and Deletion 1q44 syndrome. The genomic imbalance in the proband was used for molecular characterization of the critical genes in 1q44 region for agenesis of corpus callosum. Some genes in 11q14q25 may be responsible for laryngomalacia.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 1 4%
Unknown 22 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 22%
Student > Ph. D. Student 5 22%
Professor > Associate Professor 3 13%
Student > Bachelor 2 9%
Student > Doctoral Student 1 4%
Other 2 9%
Unknown 5 22%
Readers by discipline Count As %
Medicine and Dentistry 8 35%
Agricultural and Biological Sciences 4 17%
Biochemistry, Genetics and Molecular Biology 3 13%
Psychology 1 4%
Chemistry 1 4%
Other 0 0%
Unknown 6 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 24 February 2012.
All research outputs
#22,759,452
of 25,374,647 outputs
Outputs from Molecular Cytogenetics
#315
of 423 outputs
Outputs of similar age
#130,322
of 141,254 outputs
Outputs of similar age from Molecular Cytogenetics
#5
of 5 outputs
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So far Altmetric has tracked 423 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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