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Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Overview of attention for article published in Molecular Cytogenetics, June 2015
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Title
Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome
Published in
Molecular Cytogenetics, June 2015
DOI 10.1186/s13039-015-0142-7
Pubmed ID
Authors

Larissa Sampaio de Athayde Costa, Aline C. Zandona-Teixeira, Marilia M. Montenegro, Alexandre T. Dias, Roberta L. Dutra, Rachel S. Honjo, Debora R. Bertola, Leslie D. Kulikowski, Chong A. Kim

Abstract

Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis. We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015). Age at diagnosis varied from prenatal to 3 years and clinical features were consistent with those described in the literature. In all patients, peripheral blood karyotypes were normal and cytogenomic study was performed in order to confirm the diagnosis. Three of these patients had PKS diagnosis confirmed by buccal smear MLPA. An early conclusion from our results demonstrated that MLPA on buccal smears is a good and non-invasive method to detect extra copies of 12p and should be considered as the first exam, before a skin biopsy for a fibroblast karyotype is performed.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 26%
Student > Bachelor 4 21%
Student > Master 3 16%
Student > Doctoral Student 2 11%
Student > Ph. D. Student 2 11%
Other 1 5%
Unknown 2 11%
Readers by discipline Count As %
Medicine and Dentistry 10 53%
Biochemistry, Genetics and Molecular Biology 2 11%
Arts and Humanities 1 5%
Pharmacology, Toxicology and Pharmaceutical Science 1 5%
Neuroscience 1 5%
Other 0 0%
Unknown 4 21%

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 May 2016.
All research outputs
#8,880,227
of 14,170,856 outputs
Outputs from Molecular Cytogenetics
#103
of 277 outputs
Outputs of similar age
#144,716
of 265,764 outputs
Outputs of similar age from Molecular Cytogenetics
#3
of 5 outputs
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