array:23 [
  "pii" => "S1695403300775047"
  "issn" => "16954033"
  "doi" => "10.1016/S1695-4033(00)77504-7"
  "estado" => "S300"
  "fechaPublicacion" => "2000-12-01"
  "aid" => "77504"
  "copyright" => "Asociación Española de Pediatría"
  "copyrightAnyo" => "2002"
  "documento" => "article"
  "crossmark" => 0
  "subdocumento" => "fla"
  "cita" => "An Pediatr (Barc). 2000;53:592-5"
  "abierto" => array:3 [
    "ES" => false
    "ES2" => false
    "LATM" => false
  ]
  "gratuito" => false
  "lecturas" => array:2 [
    "total" => 12523
    "formatos" => array:3 [
      "EPUB" => 66
      "HTML" => 9619
      "PDF" => 2838
    ]
  ]
  "itemSiguiente" => array:18 [
    "pii" => "S1695403300775059"
    "issn" => "16954033"
    "doi" => "10.1016/S1695-4033(00)77505-9"
    "estado" => "S300"
    "fechaPublicacion" => "2000-12-01"
    "aid" => "77505"
    "copyright" => "Asociación Española de Pediatría"
    "documento" => "article"
    "crossmark" => 0
    "subdocumento" => "fla"
    "cita" => "An Pediatr (Barc). 2000;53:596-8"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:2 [
      "total" => 5656
      "formatos" => array:3 [
        "EPUB" => 82
        "HTML" => 4889
        "PDF" => 685
      ]
    ]
    "es" => array:10 [
      "idiomaDefecto" => true
      "titulo" => "Hemorragia intraventricular neonatal por déficit de factor V"
      "tienePdf" => "es"
      "tieneTextoCompleto" => 0
      "tieneResumen" => array:2 [
        0 => "es"
        1 => "en"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "596"
          "paginaFinal" => "598"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "en" => array:1 [
          "titulo" => "Intraventricular hemorrhage in a newborn due to factor v deficiency"
        ]
      ]
      "contieneResumen" => array:2 [
        "es" => true
        "en" => true
      ]
      "contienePdf" => array:1 [
        "es" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "R. Cancho Candela, J.M. Andrés de Llano, M.J. Sánchez Marcos, C. Urueña Leal"
          "autores" => array:4 [
            0 => array:2 [
              "nombre" => "R."
              "apellidos" => "Cancho Candela"
            ]
            1 => array:2 [
              "nombre" => "J.M."
              "apellidos" => "Andrés de Llano"
            ]
            2 => array:2 [
              "nombre" => "M.J."
              "apellidos" => "Sánchez Marcos"
            ]
            3 => array:2 [
              "nombre" => "C."
              "apellidos" => "Urueña Leal"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "es"
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403300775059?idApp=UINPBA00005H"
    "url" => "/16954033/0000005300000006/v1_201307051530/S1695403300775059/v1_201307051530/es/main.assets"
  ]
  "itemAnterior" => array:18 [
    "pii" => "S1695403300775035"
    "issn" => "16954033"
    "doi" => "10.1016/S1695-4033(00)77503-5"
    "estado" => "S300"
    "fechaPublicacion" => "2000-12-01"
    "aid" => "77503"
    "copyright" => "Asociación Española de Pediatría"
    "documento" => "article"
    "crossmark" => 0
    "subdocumento" => "fla"
    "cita" => "An Pediatr (Barc). 2000;53:586-91"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:2 [
      "total" => 4572
      "formatos" => array:3 [
        "EPUB" => 58
        "HTML" => 3693
        "PDF" => 821
      ]
    ]
    "es" => array:10 [
      "idiomaDefecto" => true
      "titulo" => "Cribado neonatal de la sordera mediante otoemisiones acústicas evocadas"
      "tienePdf" => "es"
      "tieneTextoCompleto" => 0
      "tieneResumen" => array:2 [
        0 => "es"
        1 => "en"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "586"
          "paginaFinal" => "591"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "en" => array:1 [
          "titulo" => "Neonatal hearing screening by evoked otoacoustic emissions"
        ]
      ]
      "contieneResumen" => array:2 [
        "es" => true
        "en" => true
      ]
      "contienePdf" => array:1 [
        "es" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "J.M. Cubells Fuentes, J.M. Gairí Tahull"
          "autores" => array:2 [
            0 => array:2 [
              "nombre" => "J.M."
              "apellidos" => "Cubells Fuentes"
            ]
            1 => array:2 [
              "nombre" => "J.M."
              "apellidos" => "Gairí Tahull"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "es"
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403300775035?idApp=UINPBA00005H"
    "url" => "/16954033/0000005300000006/v1_201307051530/S1695403300775035/v1_201307051530/es/main.assets"
  ]
  "es" => array:14 [
    "idiomaDefecto" => true
    "titulo" => "Monosomía r(13): a propósito de una nueva observación"
    "tieneTextoCompleto" => 0
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "592"
        "paginaFinal" => "595"
      ]
    ]
    "autores" => array:1 [
      0 => array:4 [
        "autoresLista" => "M. Cuadrado Martín, C. Boldova Aguar, S. Carrasco Lorente, S. Martínez Laborda, J. López-Pisón, A. Baldellou Vázquez, J.I. Labarta Aizpún, A. Marco Tello, V. Rebage Moisés"
        "autores" => array:9 [
          0 => array:3 [
            "nombre" => "M."
            "apellidos" => "Cuadrado Martín"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          1 => array:3 [
            "nombre" => "C&#46;"
            "apellidos" => "Boldova Aguar"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          2 => array:3 [
            "nombre" => "S&#46;"
            "apellidos" => "Carrasco Lorente"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          3 => array:3 [
            "nombre" => "S&#46;"
            "apellidos" => "Mart&#237;nez Laborda"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          4 => array:3 [
            "nombre" => "J&#46;"
            "apellidos" => "L&#243;pez-Pis&#243;n"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          5 => array:3 [
            "nombre" => "A&#46;"
            "apellidos" => "Baldellou V&#225;zquez"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">c</span>"
                "identificador" => "aff0015"
              ]
            ]
          ]
          6 => array:3 [
            "nombre" => "J&#46;I&#46;"
            "apellidos" => "Labarta Aizp&#250;n"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">d</span>"
                "identificador" => "aff0020"
              ]
            ]
          ]
          7 => array:3 [
            "nombre" => "A&#46;"
            "apellidos" => "Marco Tello"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          8 => array:3 [
            "nombre" => "V&#46;"
            "apellidos" => "Rebage Mois&#233;s"
            "referencia" => array:2 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
              1 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">&#42;</span>"
                "identificador" => "cor0005"
              ]
            ]
          ]
        ]
        "afiliaciones" => array:4 [
          0 => array:3 [
            "entidad" => "Unidad Neonatal&#46; Hospital Universitario Miguel Servet&#46; Zaragoza&#46;"
            "etiqueta" => "<span class="elsevierStyleSup">a</span>"
            "identificador" => "aff0005"
          ]
          1 => array:3 [
            "entidad" => "Secci&#243;n de Neuropediatr&#237;a&#46; Hospital Universitario Miguel Servet&#46; Zaragoza&#46;"
            "etiqueta" => "<span class="elsevierStyleSup">b</span>"
            "identificador" => "aff0010"
          ]
          2 => array:3 [
            "entidad" => "Unidades de Metabolismo yHospital Universitario Miguel Servet&#46; Zaragoza&#46;"
            "etiqueta" => "<span class="elsevierStyleSup">c</span>"
            "identificador" => "aff0015"
          ]
          3 => array:3 [
            "entidad" => "Unidades de Endocrinolog&#237;a&#46; Hospital Universitario Miguel Servet&#46; Zaragoza&#46;"
            "etiqueta" => "<span class="elsevierStyleSup">d</span>"
            "identificador" => "aff0020"
          ]
        ]
        "correspondencia" => array:1 [
          0 => array:3 [
            "identificador" => "cor0005"
            "etiqueta" => "&#42;"
            "correspondencia" => "Correspondencia&#58; Princesa&#44; 11-13&#44; 3&#46;A&#46; 50005 Zaragoza&#46;"
          ]
        ]
      ]
    ]
    "titulosAlternativos" => array:1 [
      "en" => array:1 [
        "titulo" => "Monosomy r&#40;13&#41;&#46; report of case"
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2000-01-31"
    "fechaAceptado" => "2000-09-30"
    "PalabrasClave" => array:2 [
      "es" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec186537"
          "palabras" => array:3 [
            0 => "Monosom&#237;a 13 parcial r&#40;13&#41;"
            1 => "Cariotipo"
            2 => "Malformacio-nes cl&#237;nicas"
          ]
        ]
      ]
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Key words"
          "identificador" => "xpalclavsec186536"
          "palabras" => array:3 [
            0 => "Partial monosomy 13 r&#40;13&#41;"
            1 => "Karyotype"
            2 => "Clinical malformations"
          ]
        ]
      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "es" => array:1 [
        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Se comunica un nuevo caso de monosom&#237;a r&#40;13&#41; en un reci&#233;n nacido var&#243;n con diagn&#243;stico prenatal&#46; Cuarto hijo de padres sanos y con descendencia normal&#46; Presenta una dismorfia y m&#250;ltiples malformaciones caracter&#237;sticas de la afecci&#243;n&#46; El estudio citogen&#233;tico mostr&#243; un cariotipo 46&#44;XY&#44; r&#40;13&#41; &#40;p11&#46;2-q32&#41;&#47;45&#44; XY&#44;&#63;13&#46; Nuestra observaci&#243;n es bastante similar a otras comunicaciones de la bibliograf&#237;a y confirma la relaci&#243;n entre los s&#237;ntomas cl&#237;nicos y el seg-mento ausente del cromosoma 13&#46; Se revisan los aspectos cl&#237;nicos y citogen&#233;ticos de la afecci&#243;n</p>"
      ]
      "en" => array:1 [
        "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">We report a new case of monosomy r-13 in a male new-born infant with prenatal diagnosis&#46; He was the fourth child of a healthy couple of normal lineage&#46; On physical examination typical dysmorphism and multiple congenital anomalies were found&#46; Chromosome analysis revealed a 46&#44; XY&#44; r&#40;13&#41; &#40;p11&#46;2-q32&#41; &#47;45&#44; XY&#44;-13 karyotype&#46; Our ob-servations are almost identical to those of previously published reports and confirm that the clinical severity of the symptoms depends on the location of the chromosome breakpoint&#46; The clinical and cytogenetics features of this disorder are reviewed</p>"
      ]
    ]
    "bibliografia" => array:2 [
      "titulo" => "Bibliograf&#237;a"
      "seccion" => array:1 [
        0 => array:2 [
          "identificador" => "bibs0005"
          "bibliografiaReferencia" => array:11 [
            0 => array:3 [
              "identificador" => "bib0005"
              "etiqueta" => "1&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "J&#46; Grouchy de"
                            1 => "C&#46; Turleau"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "LibroEditado" => array:3 [
                        "titulo" => "Atlas des malades chromomiques"
                        "edicion" => "12&#46;<span class="elsevierStyleSup">a</span>"
                        "serieFecha" => "1982"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0010"
              "etiqueta" => "2&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Partial Trisomies and deletions of chromosome 13"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:1 [
                            0 => "E&#46; Niebuhr"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "LibroEditado" => array:4 [
                        "titulo" => "New chromosomal syndromes"
                        "paginaInicial" => "273"
                        "paginaFinal" => "295"
                        "serieFecha" => "1977"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0015"
              "etiqueta" => "3&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "titulo" => "Deletion 13q syndrome"
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "LibroEditado" => array:5 [
                        "titulo" => "Smith&#8217;s recognizable patterns of Human malformations"
                        "paginaInicial" => "60"
                        "paginaFinal" => "61"
                        "edicion" => "5&#46;<span class="elsevierStyleSup">a</span>"
                        "serieFecha" => "1997"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0020"
              "etiqueta" => "4&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Trisomy&#47;partial monosomy 13 mosaicism associated with relatively mild clinical malformation"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "D&#46;P&#46; Duckett"
                            1 => "H&#46;J&#46; Porter"
                            2 => "I&#46;D&#46; Young"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Ann G&#233;n&#233;t"
                        "fecha" => "1992"
                        "volumen" => "35"
                        "paginaInicial" => "113"
                        "paginaFinal" => "116"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1524408"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0025"
              "etiqueta" => "5&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Monosomie 13&#40;q31&#41;&#46; A propos d&#8217;une nouvelle observation"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "A&#46; Bousfiha"
                            1 => "N&#46; Had"
                            2 => "E&#46; Chadli"
                            3 => "A&#46; Benslimane"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Ann Pediatr"
                        "fecha" => "1999"
                        "volumen" => "46"
                        "paginaInicial" => "177"
                        "paginaFinal" => "180"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0030"
              "etiqueta" => "6&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "Chih-Ping Chen"
                            1 => "Fen-Fen Liu"
                            2 => "Sheau-Wen Jan"
                            3 => "Kuo-Gon Wang"
                            4 => "Chung-Chi Lan"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1002/(SICI)1097-0223(199607)16:7<664::AID-PD924>3.0.CO;2-K"
                      "Revista" => array:6 [
                        "tituloSerie" => "Prenatal Diagnosis"
                        "fecha" => "1996"
                        "volumen" => "16"
                        "paginaInicial" => "664"
                        "paginaFinal" => "666"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8843478"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib0035"
              "etiqueta" => "7&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Unusual mosaic trisomy 13 through 13&#47;13 translocation and monosomy 13 with a small ring"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "S&#46;M&#46; Jalai"
                            1 => "J&#46;A&#46; Martin"
                            2 => "T&#46;R&#46; Benjamin"
                            3 => "M&#46;K&#46; Kukolich"
                            4 => "J&#46;K&#46; Townsed-Parcham"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Ann G&#233;n&#233;t"
                        "fecha" => "1990"
                        "volumen" => "33"
                        "paginaInicial" => "173"
                        "paginaFinal" => "175"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/2288463"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib0040"
              "etiqueta" => "8&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Trisomy&#47;partial monosomy mosaicism of no&#46; 13 pair &#40;46&#44; xx&#44; &#8211; 13&#44; &#43; rob &#40;13q 13&#41; &#47;46&#44; xx&#44; r &#40;13&#41; &#40;p11q 34&#41;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "S&#46; Oka"
                            1 => "Y&#46; Nakagome"
                            2 => "F&#46; Teramura"
                            3 => "F&#46; Hosono"
                            4 => "M&#46; Katumata"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Japan J Human Genet"
                        "fecha" => "1977"
                        "volumen" => "22"
                        "paginaInicial" => "73"
                        "paginaFinal" => "78"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib0045"
              "etiqueta" => "9&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:6 [
                            0 => "G&#46; Stetten"
                            1 => "C&#46;M&#46; Tuck-Miller"
                            2 => "K&#46;J&#46; Blakemore"
                            3 => "C&#46; Wong"
                            4 => "H&#46;H&#46; Kazazian Jr"
                            5 => "S&#46;E&#46; Antonarakis"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Mol Biol Med"
                        "fecha" => "1990"
                        "volumen" => "7"
                        "paginaInicial" => "479"
                        "paginaFinal" => "484"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/2077349"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib0050"
              "etiqueta" => "10&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Preliminary definition of a critical region of chromosome 13 in q32&#58; Report of 14 cases with 13q deletions and rewie of the literature"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:1 [
                            0 => "S&#46; Brown"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1002/ajmg.1320450115"
                      "Revista" => array:5 [
                        "tituloSerie" => "Am J Med Genet"
                        "fecha" => "1993"
                        "volumen" => "45"
                        "paginaInicial" => "52"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8418661"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib0055"
              "etiqueta" => "11&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The 13q Syndrome&#58; The Molecular Definition of a Critical Deletion Region in Band 13q32"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "S&#46; Brown"
                            1 => "J&#46; Russo"
                            2 => "D&#46; Chitayat"
                            3 => "D&#46; Warburton"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Am J Hum Genet"
                        "fecha" => "1995"
                        "volumen" => "57"
                        "paginaInicial" => "859"
                        "paginaFinal" => "866"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7573047"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
          ]
        ]
      ]
    ]
  ]
  "idiomaDefecto" => "es"
  "url" => "/16954033/0000005300000006/v1_201307051530/S1695403300775047/v1_201307051530/es/main.assets"
  "Apartado" => array:4 [
    "identificador" => "14234"
    "tipo" => "SECCION"
    "es" => array:2 [
      "titulo" => "Medicina fetal y neonatolog&#237;a"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "es"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/16954033/0000005300000006/v1_201307051530/S1695403300775047/v1_201307051530/es/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403300775047?idApp=UINPBA00005H"
]
Compartir
Información de la revista
Vol. 53. Núm. 6.
Páginas 592-595 (diciembre 2000)
Compartir
Compartir
Descargar PDF
Más opciones de artículo
Vol. 53. Núm. 6.
Páginas 592-595 (diciembre 2000)
Acceso a texto completo
Monosomía r(13): a propósito de una nueva observación
Monosomy r(13). report of case
Visitas
19933
M. Cuadrado Martína, C. Boldova Aguara, S. Carrasco Lorentea, S. Martínez Labordaa, J. López-Pisónb, A. Baldellou Vázquezc, J.I. Labarta Aizpúnd, A. Marco Telloa, V. Rebage Moisésa,*
a Unidad Neonatal. Hospital Universitario Miguel Servet. Zaragoza.
b Sección de Neuropediatría. Hospital Universitario Miguel Servet. Zaragoza.
c Unidades de Metabolismo yHospital Universitario Miguel Servet. Zaragoza.
d Unidades de Endocrinología. Hospital Universitario Miguel Servet. Zaragoza.
Este artículo ha recibido
Información del artículo
Resumen
Bibliografía
Descargar PDF
Estadísticas

Se comunica un nuevo caso de monosomía r(13) en un recién nacido varón con diagnóstico prenatal. Cuarto hijo de padres sanos y con descendencia normal. Presenta una dismorfia y múltiples malformaciones características de la afección. El estudio citogenético mostró un cariotipo 46,XY, r(13) (p11.2-q32)/45, XY,?13. Nuestra observación es bastante similar a otras comunicaciones de la bibliografía y confirma la relación entre los síntomas clínicos y el seg-mento ausente del cromosoma 13. Se revisan los aspectos clínicos y citogenéticos de la afección

Palabras clave:
Monosomía 13 parcial r(13)
Cariotipo
Malformacio-nes clínicas

We report a new case of monosomy r-13 in a male new-born infant with prenatal diagnosis. He was the fourth child of a healthy couple of normal lineage. On physical examination typical dysmorphism and multiple congenital anomalies were found. Chromosome analysis revealed a 46, XY, r(13) (p11.2-q32) /45, XY,-13 karyotype. Our ob-servations are almost identical to those of previously published reports and confirm that the clinical severity of the symptoms depends on the location of the chromosome breakpoint. The clinical and cytogenetics features of this disorder are reviewed

Key words:
Partial monosomy 13 r(13)
Karyotype
Clinical malformations
El Texto completo está disponible en PDF
Bibliografía
[1.]
J. Grouchy de, C. Turleau.
Atlas des malades chromomiques, 12.a,
[2.]
E. Niebuhr.
Partial Trisomies and deletions of chromosome 13.
New chromosomal syndromes, pp. 273-295
[3.]
Deletion 13q syndrome.
Smith’s recognizable patterns of Human malformations, 5.a, pp. 60-61
[4.]
D.P. Duckett, H.J. Porter, I.D. Young.
Trisomy/partial monosomy 13 mosaicism associated with relatively mild clinical malformation.
Ann Génét, 35 (1992), pp. 113-116
[5.]
A. Bousfiha, N. Had, E. Chadli, A. Benslimane.
Monosomie 13(q31). A propos d’une nouvelle observation.
Ann Pediatr, 46 (1999), pp. 177-180
[6.]
Chih-Ping Chen, Fen-Fen Liu, Sheau-Wen Jan, Kuo-Gon Wang, Chung-Chi Lan.
Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus.
[7.]
S.M. Jalai, J.A. Martin, T.R. Benjamin, M.K. Kukolich, J.K. Townsed-Parcham.
Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.
Ann Génét, 33 (1990), pp. 173-175
[8.]
S. Oka, Y. Nakagome, F. Teramura, F. Hosono, M. Katumata.
Trisomy/partial monosomy mosaicism of no. 13 pair (46, xx, – 13, + rob (13q 13) /46, xx, r (13) (p11q 34).
Japan J Human Genet, 22 (1977), pp. 73-78
[9.]
G. Stetten, C.M. Tuck-Miller, K.J. Blakemore, C. Wong, H.H. Kazazian Jr, S.E. Antonarakis.
Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.
Mol Biol Med, 7 (1990), pp. 479-484
[10.]
S. Brown.
Preliminary definition of a critical region of chromosome 13 in q32: Report of 14 cases with 13q deletions and rewie of the literature.
Am J Med Genet, 45 (1993), pp. 52
[11.]
S. Brown, J. Russo, D. Chitayat, D. Warburton.
The 13q Syndrome: The Molecular Definition of a Critical Deletion Region in Band 13q32.
Am J Hum Genet, 57 (1995), pp. 859-866
Copyright © 2002. Asociación Española de Pediatría
Descargar PDF
Idiomas
Anales de Pediatría
Opciones de artículo
Herramientas
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?