Chromosomal microarray analysis in ocular developmental anomalies

被引:0
|
作者
Delahaye, Andree [1 ,2 ,3 ]
Pipiras, Eva [1 ,2 ,3 ]
Benzacken, Brigitte [1 ,2 ,3 ]
机构
[1] Hop Jean Verdier, AP HP, Serv Histol Embryol & Cytogenet, Lab Cytogenet, F-93140 Bondy, France
[2] Univ Paris 13, UFR SMBH, Bobigny, France
[3] INSERM, U676, Paris, France
关键词
chromosomal microarray analysis; congenital eye malformations; copy number variant; karyotyping; microarray; ocular developmental anomalies; UNITED-KINGDOM; COLOBOMA; MICROPHTHALMOS; ANOPHTHALMIA; VARIANTS; ARRAY;
D O I
10.1586/ERM.12.41
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:425 / 427
页数:3
相关论文
共 50 条
  • [1] The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics
    Beaudet, Arthur L.
    [J]. CHILD DEVELOPMENT, 2013, 84 (01) : 121 - 132
  • [2] Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis
    Jamieson, RV
    Gaunt, L
    Donnai, D
    Black, GCM
    Kerr, B
    Stecko, O
    Black, GCM
    [J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 2003, 87 (05) : 646 - 648
  • [4] Chromosomal abnormalities detected by karyotyping and microarray analysis in twins with structural anomalies
    Li, L.
    He, Z.
    Huang, X.
    Lin, S.
    Wu, J.
    Huang, L.
    Wan, Y.
    Fang, Q.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2020, 55 (04) : 502 - 509
  • [5] Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies
    Greenbaum, Lior
    Maya, Idit
    Sagi-Dain, Lena
    Sukenik-Halevy, Rivka
    Berkenstadt, Michal
    Yonath, Hagith
    Rienstein, Shlomit
    Shalata, Adel
    Katorza, Eldad
    Singer, Amihood
    [J]. NEUROLOGY-GENETICS, 2021, 7 (03) : e585
  • [6] Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies
    Jelin, Angie
    Sagaser, Katelynn
    Lawson, Cathleen
    Forster, Katherine Rock
    Leppert, Kristen
    Hertenstein, Christine
    Batista, Denise
    Blakemore, Karin
    [J]. OBSTETRICS AND GYNECOLOGY, 2019, 133 (04): : 827 - 828
  • [7] Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies
    Sagi-Dain, Lena
    Maya, Idit
    Reches, Adi
    Frumkin, Ayala
    Grinshpun-Cohen, Julia
    Segel, Reeval
    Manor, Esther
    Khayat, Morad
    Tenne, Tamar
    Banne, Ehud
    Shalata, Adel
    Yonath, Hagith
    Berger, Racheli
    Singer, Amihood
    Ben-Shachar, Shay
    [J]. OBSTETRICS AND GYNECOLOGY, 2018, 132 (06): : 1368 - 1375
  • [8] Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in fetuses with ultrasound anomalies in the urinary system
    Hu, Ting
    Zhang, Zhu
    Wang, Jiamin
    Li, Qinqin
    Zhu, Hongmei
    Lai, Yi
    Wang, He
    Liu, Shanling
    [J]. PRENATAL DIAGNOSIS, 2019, 39 (12) : 1096 - 1106
  • [9] Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders
    Gurkan, Hakan
    Atli, Emine Ikbal
    Atli, Engin
    Bozatli, Leyla
    Altay, Menguhan Araz
    Yalcintepe, Sinem
    Ozen, Yasemin
    Eker, Damla
    Akurut, Cisem
    Demir, Selma
    Gorker, Isik
    [J]. NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, 2020, 57 (03): : 177 - 191
  • [10] DEVELOPMENTAL ANOMALIES ASSOCIATED WITH CHROMOSOMAL ABERRATION
    LUSSKIN, N
    GOTTLIEB, M
    STRAUSS, L
    [J]. LABORATORY INVESTIGATION, 1962, 11 (08) : 682 - &