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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Overview of attention for article published in Nature Genetics, February 2010
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)
  • Good Attention Score compared to outputs of the same age and source (68th percentile)

Mentioned by

2 blogs
1 patent
1 Facebook page
1 research highlight platform


452 Dimensions

Readers on

334 Mendeley
7 CiteULike
2 Connotea
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Published in
Nature Genetics, February 2010
DOI 10.1038/ng.534
Pubmed ID

Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker, Heather C Mefford, Jeffrey M Kidd, Sharon R Browning, Brian L Browning, Diane E Dickel, Deborah L Levy, Blake C Ballif, Kathryn Platky, Darren M Farber, Gordon C Gowans, Jessica J Wetherbee, Alexander Asamoah, David D Weaver, Paul R Mark, Jennifer Dickerson, Bhuwan P Garg, Sara A Ellingwood, Rosemarie Smith, Valerie C Banks, Wendy Smith, Marie T McDonald, Joe J Hoo, Beatrice N French, Cindy Hudson, John P Johnson, Jillian R Ozmore, John B Moeschler, Urvashi Surti, Luis F Escobar, Dima El-Khechen, Jerome L Gorski, Jennifer Kussmann, Bonnie Salbert, Yves Lacassie, Alisha Biser, Donna M McDonald-McGinn, Elaine H Zackai, Matthew A Deardorff, Tamim H Shaikh, Eric Haan, Kathryn L Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E DeLisi, Jonathan Sebat, Mary-Claire King, Lisa G Shaffer, Evan E Eichler


We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 x 10(-5), OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease.

Mendeley readers

The data shown below were compiled from readership statistics for 334 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 10 3%
United Kingdom 5 1%
Brazil 4 1%
Germany 2 <1%
Italy 2 <1%
Spain 2 <1%
Netherlands 2 <1%
Portugal 1 <1%
Iceland 1 <1%
Other 5 1%
Unknown 300 90%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 95 28%
Researcher 73 22%
Student > Bachelor 27 8%
Student > Master 26 8%
Professor > Associate Professor 24 7%
Other 73 22%
Unknown 16 5%
Readers by discipline Count As %
Agricultural and Biological Sciences 151 45%
Medicine and Dentistry 65 19%
Biochemistry, Genetics and Molecular Biology 42 13%
Neuroscience 18 5%
Computer Science 8 2%
Other 26 8%
Unknown 24 7%

Attention Score in Context

This research output has an Altmetric Attention Score of 16. 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 18 December 2019.
All research outputs
of 16,413,466 outputs
Outputs from Nature Genetics
of 6,522 outputs
Outputs of similar age
of 15,341,116 outputs
Outputs of similar age from Nature Genetics
of 6,517 outputs
Altmetric has tracked 16,413,466 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,522 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 34.5. This one has gotten more attention than average, scoring higher than 68% 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 15,341,116 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 91% of its contemporaries.
We're also able to compare this research output to 6,517 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 68% of its contemporaries.