Neurological dysfunction and 15q11.2 microdeletion: Report of a new case

Santotoribio, José Diego; Salinas-Martín, Manuel Vicente; Batalha-Caetano, Paula

doi:10.1016/j.medcle.2016.02.046

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The most commonly used technique to study the human genome is the constitutional karyotype that reveals the chromosome number and structure. The constitutional karyotype can detect large duplications and/or deletions. Using new diagnostic techniques such as array-based comparative genomic hybridization (array-CGH), the entire human genome was analyzed in order to detect gains and losses of genetic material associated with microdeletion and/or microduplication syndromes.<a class="elsevierStyleCrossRef" href="#bib0050">1</a> Chromosomal analysis by array-CGH allows to detect chromosomal abnormalities that would be imperceptible to the constitutional karyotype.We present a case of a 2-year-old with neurological dysfunction who manifested maturational delay and marked hypotonia. The constitutional karyotype and the Prader-Willi genetic study were negative. Chromosome analysis was performed by array-CGH, using the SurePrint G3 Human CGH Microarray 400K (Agilent Technologies), with an average spacing between probes of 5.3 and 4.6kb for RefSeq genes. The microarray reading was performed with the Microarray Scanner G2565CA (Agilent Technologies) at a 3μm resolution, and the analysis of the results was carried out with the CytoGenomics v. 2.0.6.0 (Agilent Technologies) software.The results showed a genomic male pattern consistent with the formula: arr (1-22) x2, (XY) x1 (ISCN, 2009). 3 previously unknown copy number changes were detected (of undetermined significance), and the heterozygous microdeletion on chromosome 15, between breakpoints BP1 and BP2, the cytoband 15q11.2 and genomic coordinates chr15: 18692865-20308073, which includes the deletion of genes GOLGA6L6, GOLGA8C, BCL8, LOC646214, CXADRP2, POTEB, NF1P1, LOC727924, OR4M2, OR4N4, OR4N3P, LOC646396, GOLGA8DP, GOLGA6L1 (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>).<elsevierMultimedia ident="tbl0005"></elsevierMultimedia>Although there are only a few case reports of patients with 15q11.2 microdeletion (BP1-BP2), recent studies<a class="elsevierStyleCrossRefs" href="#bib0055">2,3</a> propose that this area is a genomic region susceptible to neurological dysfunction, including alterations in the motor development, language retardation, behavioural disorders, autistic traits, hyperactivity disorder with attention deficit, seizures and mild dysmorphic features, leading to a possible new 15q11.2 microdeletion syndrome, which could be associated with the patient's clinical history.Other studies also included proximal oesophageal atresia, distal tracheoesophageal fistula and congenital cataracts within the phenotypic spectrum of the 15q11.2 microdeletion syndrome.<a class="elsevierStyleCrossRefs" href="#bib0065">4,5</a> Furthermore, 15q11.2 microdeletion has been linked to generalized idiopathic epilepsy,<a class="elsevierStyleCrossRef" href="#bib0075">6</a> schizophrenia,<a class="elsevierStyleCrossRef" href="#bib0080">7</a> Alzheimer's disease<a class="elsevierStyleCrossRef" href="#bib0085">8</a> and congenital heart disease.<a class="elsevierStyleCrossRef" href="#bib0090">9</a>This case provides further evidence of neurological dysfunction by 15q11.2 microdeletion and shows the importance of array-CGH to detect the presence of microdeletions and/or microduplications that would be undetectable with conventional cytogenetic techniques. With this new technique, and due to its high resolving power, the diagnosis of these diseases has increased, a number of new syndromes have been defined and the knowledge of certain pathogenic mechanisms in medical genetics has been improved." "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "Please cite this article as: Santotoribio JD, Salinas-Martín MV, Batalha-Caetano P. Nuevo caso de disfunción neurológica y microdeleción 15q11.2. Endocrinol Nutr. 2015;145:371–372." ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Type \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Zygosity \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Cytoband \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">NCBI36 genomic coordinates (hg18) \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Size (Mb) \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Deletion \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygosity \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">7q34 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">chr7:141396899-141438563 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">0.042 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Deletion \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygosity \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">13q31.1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">chr13:83439851-83525624 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">0.086 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Deletion \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygosity \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">15q11.2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">chr15:18692865-20308073 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1.615 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Deletion \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygosity \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">16p13.3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">chr16:2589724-2638702 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">0.049 \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1026529.png" ] ] ] ] "descripcion" => array:1 [ "en" => "Copy number changes detected by comparative genomic hybridization on arrays." ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0050" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Localización cromosómica de duplicaciones submicroscópicas en pacientes con trastornos del neurodesarrollo para identificar casos con alto riesgo de recurrencia familiar" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A. 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ISSN: 2387-0206

Launched in 1943, Medicina Clínica is a fortnightly journal aimed at the promotion of clinical research and practice among internal medicine and other specialists. The key characteristics of Medicina Clínica are the scientific and methodological rigor of its manuscripts, the topicality of its contents, and, especially, its practical focus with highly useful information for clinical practice. Medicina Clínica is predominantly interested in publishing original research manuscripts, which are rigorously selected according to their quality, originality, and interest, and also in continued medical education-oriented manuscripts, which are commissioned by the journal to relevant authors (Editorials, Reviews, and Diagnosis and Treatment). These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine. The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles. Medicina Clínica is included in the General and Internal Medicine category of Thomson Reuters.

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Impact factor

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years.

© Clarivate Analytics, Journal Citation Reports 2022

Impact factor 2023

2.6

Citescore

CiteScore measures average citations received per document published.

Citescore 2023

3.1

SJR

SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact.

SJR 2023

0.371

SNIP

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

SNIP 2023

0.511

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Vol. 145. Issue 8.

Pages 371-372 (October 2015)

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