Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

被引:0
|
作者
Wilson Wai Sing Chong
Ivan Fai Man Lo
Stephen Tak Sum Lam
Chi Chiu Wang
Ho Ming Luk
Tak Yeung Leung
Kwong Wai Choy
机构
[1] The Chinese University of Hong Kong,Department of Obstetrics and Gynaecology
[2] Prince of Wales Hospital,Prenatal genetic diagnosis laboratory
[3] Clinical Genetic Service,Department of Health
[4] The Chinese University of Hong Kong,CUHK
[5] The Chinese University of Hong Kong,Shenzhen Research Institute
来源
Molecular Cytogenetics | / 7卷
关键词
Chromosomal microarray; Array CGH; Developmental delay; Intellectual disabilities; Multiple congenital anomalies;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [31] Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay
    Morteza Hemmat
    Xiaojing Yang
    Patricia Chan
    Robert A McGough
    Leslie Ross
    Loretta W Mahon
    Arturo L Anguiano
    Wang T Boris
    Mohamed M Elnaggar
    Jia-Chi J Wang
    Charles M Strom
    Fatih Z Boyar
    Molecular Cytogenetics, 7
  • [32] Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay
    Hemmat, Morteza
    Yang, Xiaojing
    Chan, Patricia
    McGough, Robert A.
    Ross, Leslie
    Mahon, Loretta W.
    Anguiano, Arturo L.
    Boris, Wang T.
    Elnaggar, Mohamed M.
    Wang, Jia-Chi J.
    Strom, Charles M.
    Boyar, Fatih Z.
    MOLECULAR CYTOGENETICS, 2014, 7
  • [33] Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies
    Mohamed A. M. Ali
    Abdelrahman M. Hassan
    Mosaab A. Saafan
    Adel A. Abdelmagid
    Biochemical Genetics, 2020, 58 : 74 - 101
  • [34] Additive diagnostic yield of homozygosity regions identified during chromosomal microarray testing in children with developmental delay, dysmorphic features or congenital anomalies
    Ali, Mohamed
    Madian, Abdelrahman
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 672 - 672
  • [35] Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies
    Ali, Mohamed A. M.
    Hassan, Abdelrahman M.
    Saafan, Mosaab A.
    Abdelmagid, Adel A.
    BIOCHEMICAL GENETICS, 2020, 58 (01) : 74 - 101
  • [36] Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
    Andersson, HC
    Kratz, LC
    Kelley, RI
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 36 - 36
  • [37] Investigation of Submicroscopic Chromosomal Anomalies on Patients with Unexplained Intellectual Disabilities with Molecular Karyotyping
    Saat, Hanife
    Ergun, Mehmet Ali
    Pergin, Emriye Ferda
    GAZI MEDICAL JOURNAL, 2022, 33 (04): : 375 - 380
  • [38] Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients
    Perovic, Dijana
    Damnjanovic, Tatjana
    Jekic, Biljana
    Dusanovic-Pjevic, Marija
    Grk, Milka
    Djuranovic, Ana
    Rasic, Milica
    Novakovic, Ivana
    Maksimovic, Nela
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2022, 36 (06)
  • [39] Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
    Shin, Saeam
    Yu, Nae
    Choi, Jong Rak
    Jeong, Seri
    Lee, Kyung-A
    ANNALS OF LABORATORY MEDICINE, 2015, 35 (05) : 510 - 518
  • [40] Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers
    Ayaz, Akif
    Gezdirici, Alper
    Gulec, Elif Yilmaz
    Ozalp, Ozge
    Koseoglu, Abdullah Huseyin
    Dogru, Zeynep
    Yalcintepe, Sinem
    MEDENIYET MEDICAL JOURNAL, 2022, 37 (02): : 180 - 193