Detection of Chromosomal Imbalances in an Argentinean group of patients with Intellectual Disability or Multiple Congenital Anomalies

被引:0
|
作者
Espeche, L. D. [1 ]
Delea, M. [1 ]
Massara, S. [2 ]
Solari, A. [1 ]
Bidondo, M. P. [1 ]
Barbero, P. [1 ]
Oliveri, J. [2 ]
Ritler, M. [3 ]
Brun, P. [2 ]
Cosentino, V. [4 ]
Martin, R. [5 ]
Mori, M. A. [5 ]
Palomares, M. [5 ]
Nevado, J. [5 ]
Dain, L. B. [1 ]
Rozental, S. [1 ]
机构
[1] Ctr Nacl Genet Med, Buenos Aires, DF, Argentina
[2] Hosp Alta Complejidad Red Cruce, Buenos Aires, DF, Argentina
[3] Hosp Materno Infantil Ramon Sarda, Buenos Aires, DF, Argentina
[4] Hosp Interzonal Gen Agudos Luisa Cravenna Gandulf, Buenos Aires, DF, Argentina
[5] Inst Nacl Genet Med & Mol, Madrid, Spain
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
E-P11.14
引用
收藏
页码:979 / 980
页数:2
相关论文
共 50 条
  • [1] Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies
    Spreiz, A.
    Haberlandt, E.
    Baumann, M.
    Sigl, S. Baumgartner
    Fauth, C.
    Gautsch, K.
    Karall, D.
    Janetschek, C.
    Rostasy, K.
    Scholl-Buergi, S.
    Zotter, S.
    Utermann, G.
    Zschocke, J.
    Kotzot, D.
    CLINICAL GENETICS, 2014, 86 (04) : 361 - 366
  • [2] \qcprints Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability
    Sireteanu, Adriana
    Popescu, Roxana
    Braha, Elena Emanuela
    Bujoran, Cornel
    Butnariu, Lacramioara
    Caba, Lavinia
    Graur, Elena
    Gorduza, Eusebiu Vlad
    Gramescu, Mihaela
    Ivanov, Iuliu Cristian
    Panzaru, Monica
    Rusu, Cristina
    REVISTA ROMANA DE MEDICINA DE LABORATOR, 2014, 22 (02): : 157 - 164
  • [3] Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies
    Edelmann, Lisa
    Hirschhorn, Kurt
    YEAR IN HUMAN AND MEDICAL GENETICS 2009, 2009, 1151 : 157 - 166
  • [4] Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability
    Sansovic, Ivona
    Ivankov, Ana-Maria
    Bobinec, Adriana
    Kero, Mijana
    Barisic, Ingeborg
    CROATIAN MEDICAL JOURNAL, 2017, 58 (03) : 231 - 238
  • [5] Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
    Sarah Vergult
    Ellen Van Binsbergen
    Tom Sante
    Silke Nowak
    Olivier Vanakker
    Kathleen Claes
    Bruce Poppe
    Nathalie Van der Aa
    Markus J van Roosmalen
    Karen Duran
    Masoumeh Tavakoli-Yaraki
    Marielle Swinkels
    Marie-José van den Boogaard
    Mieke van Haelst
    Filip Roelens
    Frank Speleman
    Edwin Cuppen
    Geert Mortier
    Wigard P Kloosterman
    Björn Menten
    European Journal of Human Genetics, 2014, 22 : 652 - 659
  • [6] Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
    Vergult, Sarah
    Van Binsbergen, Ellen
    Sante, Tom
    Nowak, Silke
    Vanakker, Olivier
    Claes, Kathleen
    Poppe, Bruce
    Van der Aa, Nathalie
    van Roosmalen, Markus J.
    Duran, Karen
    Tavakoli-Yaraki, Masoumeh
    Swinkels, Marielle
    van den Boogaard, Marie-Jose
    van Haelst, Mieke
    Roelens, Filip
    Speleman, Frank
    Cuppen, Edwin
    Mortier, Geert
    Kloosterman, Wigard P.
    Menten, Bjoern
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (05) : 652 - 659
  • [7] Chromosomal microarray testing in patients with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies: A Korean multicenter study
    Jo, I.
    Jang, W.
    Park, J.
    Chae, H.
    Kim, M.
    Kim, Y.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 926 - 926
  • [8] Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia
    Sihombing, Nydia Rena Benita
    Winarni, Tri Indah
    de Leeuw, Nicole
    van Bon, Bregje
    van Bokhoven, Hans
    Faradz, Sultana M. H.
    INTRACTABLE & RARE DISEASES RESEARCH, 2023, 12 (02) : 104 - 113
  • [9] An efficient genetic test flow for multiple congenital anomalies and intellectual disability
    Yokoi, Takayuki
    Enomoto, Yumi
    Tsurusaki, Yoshinori
    Harada, Noriaki
    Saito, Toshiyuki
    Nagai, Jun-ichi
    Naruto, Takuya
    Kurosawa, Kenji
    PEDIATRICS INTERNATIONAL, 2020, 62 (05) : 556 - 561
  • [10] Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system
    Espeche, Lucia Daniela
    Solari, Andrea Paula
    Mori, Maria Angeles
    Arenas, Ruben Martin
    Palomares, Maria
    Perez, Myriam
    Martinez, Cinthia
    Lotersztein, Vanesa
    Segovia, Mabel
    Armando, Romina
    Dain, Liliana Beatriz
    Nevado, Julian
    Lapunzina, Pablo
    Rozental, Sandra
    MOLECULAR BIOLOGY REPORTS, 2020, 47 (09) : 6863 - 6878