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Carta al Editor
Nuevo caso de disfunción neurológica y microdeleción 15q11.2
Neurological dysfunction and 15q11.2 microdeletion: Report of a new case
José Diego Santotoribioa,
Autor para correspondencia
jdsantotoribioc@gmail.com

Autor para correspondencia.
, Manuel Vicente Salinas-Martínb, Paula Batalha-Caetanoc
a Unidad de Gestión Clínica de Laboratorios Clínicos, Hospital Universitario Puerto Real, Puerto Real, Cádiz, España
b Unidad de Gestión Clínica de Anatomía Patológica, Hospital Juan Ramón Jiménez, Huelva, España
c Unidad de Gestión Clínica de Uro-Nefrología, Hospital Universitario Virgen del Rocío, Sevilla, España
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El an&#225;lisis cromos&#243;mico mediante <span class="elsevierStyleItalic">array</span>-CGH permite detectar anomal&#237;as cromos&#243;micas que ser&#237;an imperceptibles con el cariotipo constitucional&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Exponemos un caso de un ni&#241;o de 2 a&#241;os con disfunci&#243;n neurol&#243;gica que presentaba retraso de &#237;tems madurativos e hipoton&#237;a marcada&#46; El cariotipo constitucional y el estudio gen&#233;tico Prader-Willi fueron negativos&#46; Se realiz&#243; an&#225;lisis cromos&#243;mico mediante <span class="elsevierStyleItalic">array</span>-CGH&#44; utilizando el <span class="elsevierStyleItalic">SurePrint G3 Human CGH Microarray 400K</span> &#40;Agilent Technologies&#41;&#44; con una separaci&#243;n media entre sondas de 5&#44;3 y 4&#44;6<span class="elsevierStyleHsp" style=""></span>Kb para los genes RefSeq&#46; La lectura del <span class="elsevierStyleItalic">microarray</span> se realiz&#243; con el <span class="elsevierStyleItalic">Microarray Scanner G2565CA</span> &#40;Agilent Technologies&#41; a una resoluci&#243;n de 3<span class="elsevierStyleHsp" style=""></span>&#956;m&#44; y el an&#225;lisis de los resultados&#44; con el <span class="elsevierStyleItalic">software CytoGenomics v&#46; 2&#46;0&#46;6&#46;0</span> &#40;Agilent Technologies&#41;&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Los resultados obtenidos mostraron un patr&#243;n gen&#243;mico de sexo masculino compatible con la f&#243;rmula&#58; arr&#40;1-22&#41;x2&#44;&#40;X-Y&#41;x1 &#40;ISCN&#44; 2009&#41;&#46; Se detectaron 3 cambios de n&#250;mero de copia no descritos anteriormente &#40;de significado incierto&#41;&#44; y la microdeleci&#243;n en heterocigosis en el cromosoma 15&#44; entre los puntos de interrupci&#243;n BP1 y BP2&#44; de la citobanda 15q11&#46;2 y coordenadas gen&#243;micas chr15&#58;18692865-20308073&#44; que incluye la deleci&#243;n de los genes <span class="elsevierStyleItalic">GOLGA6L6&#44; GOLGA8C&#44; BCL8&#44; LOC646214&#44; CXADRP2&#44; POTEB&#44; NF1P1&#44; LOC727924&#44; OR4M2&#44; OR4N4&#44; OR4N3P&#44; LOC646396&#44; GOLGA8DP&#44; GOLGA6L1</span> &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">tabla 1</a>&#41;&#46;</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Aunque son pocas las publicaciones de casos de pacientes con microdeleci&#243;n 15q11&#46;2 &#40;BP1-BP2&#41;&#44; estudios recientes<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> proponen que esta zona es una regi&#243;n gen&#243;mica de susceptibilidad para la disfunci&#243;n neurol&#243;gica&#44; incluyendo alteraciones en el desarrollo motor&#44; retraso en el lenguaje&#44; trastornos de conducta&#44; rasgos autistas&#44; trastorno de hiperactividad con d&#233;ficit de atenci&#243;n&#44; convulsiones y rasgos dism&#243;rficos leves&#44; dando lugar a un posible nuevo s&#237;ndrome de microdeleci&#243;n 15q11&#46;2&#44; que podr&#237;a asociarse con la historia cl&#237;nica de este paciente&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Otros trabajos tambi&#233;n incluyen en el espectro fenot&#237;pico del s&#237;ndrome de microdeleci&#243;n 15q11&#46;2 la atresia de es&#243;fago proximal&#44; la f&#237;stula traqueoesof&#225;gica distal y las cataratas cong&#233;nitas<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;5</span></a>&#46; Adem&#225;s&#44; la microdeleci&#243;n 15q11&#46;2 se ha relacionado con la epilepsia idiop&#225;tica generalizada<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a>&#44; la esquizofrenia<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a>&#44; la enfermedad de Alzheimer<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> y la cardiopat&#237;a cong&#233;nita<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a>&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Este caso aporta una nueva evidencia de disfunci&#243;n neurol&#243;gica por microdeleci&#243;n 15q11&#46;2&#44; y manifiesta la importancia de realizar <span class="elsevierStyleItalic">array</span>-CGH para poder detectar la presencia de microdeleciones y&#47;o microduplicaciones que ser&#237;an indetectables con t&#233;cnicas citogen&#233;ticas convencionales&#46; Debido a su gran poder de resoluci&#243;n&#44; con esta nueva t&#233;cnica se ha incrementado el diagn&#243;stico de estas enfermedades&#44; se han definido un gran n&#250;mero de nuevos s&#237;ndromes y se ha mejorado el conocimiento de ciertos mecanismos etiopatog&#233;nicos en gen&#233;tica m&#233;dica&#46;</p></span>"
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                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " align="left" valign="top">Deleci&#243;n&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">chr16&#58;2589724-2638702&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t</td></tr></tbody></table>
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Información del artículo
ISSN: 00257753
Idioma original: Español
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