THE USE OF ARRAY CGH IN A COHORT OF ALBANIAN CHILDREN WITH DEVELOPMENT DELAY/INTELLECTUAL DISABILITY, CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES

被引:0
|
作者
Babameto-Laku, Anila [1 ]
Roko, Dorina [1 ]
Tabaku, Mirela [1 ]
Bali , Donjeta [2 ]
机构
[1] Univ Hosp Ctr Mother Teresa, Fac Med, Dept Pediat, Serv Med Genet, Tirana, Albania
[2] Univ Hosp Ctr Mother Teresa, Fac Med, Dept Pediat, Serv Oncohematol, Tirana, Albania
关键词
congenital anomalies; deletion; duplication; intellectual disability; karyotype; microarray comparative genomic hybridization;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
476
引用
收藏
页码:1495 / 1495
页数:1
相关论文
共 50 条
  • [41] Update on detection of submicroscopic chromosomal imbalances in patients with learning disability and dysmorphic features by array-based comparative genomic hybridization (array-CGH) at 1 Mb resolution
    Shaw-Smith, C
    Rickman, L
    Gribble, S
    Willatt, L
    Prigmore, E
    Porter, K
    Curley, R
    Whittaker, J
    Dunn, C
    Firth, H
    Wilson, L
    Clayton-Smith, J
    Temple, K
    Fryer, A
    Carter, N
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S33 - S33
  • [42] Complex Genomic Rearrangement of Chromosome 16p13.3 Detected by Array Comparative Genomic Hybridization in a Patient With Multiple Congenital Anomalies, Dysmorphic Craniofacial Features, and Developmental Delay
    Gu, Jun
    Nagamani, Sandesh C. Sreenath
    Hopwood, Vicki L.
    Sanchez, Beatriz
    Saeidinejad, Yasaman
    Ou, Zhishuo
    Peacock, Sandra
    Grange, Dorothy K.
    Stankiewicz, Pawel
    Cheung, Sau Wai
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (10) : 2589 - 2592
  • [43] Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort
    Chong, Wilson Wai Sing
    Lo, Ivan Fai Man
    Lam, Stephen Tak Sum
    Wang, Chi Chiu
    Luk, Ho Ming
    Leung, Tak Yeung
    Choy, Kwong Wai
    MOLECULAR CYTOGENETICS, 2014, 7
  • [44] Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort
    Wilson Wai Sing Chong
    Ivan Fai Man Lo
    Stephen Tak Sum Lam
    Chi Chiu Wang
    Ho Ming Luk
    Tak Yeung Leung
    Kwong Wai Choy
    Molecular Cytogenetics, 7
  • [45] Definition of chromosomal abnormalities in children with multiple congenital anomalies, dysmorphic features and mental retardation using spectral karyotyping (SKY™).
    Ben Shachar, S
    Yaron, Y
    Kunig, D
    Goldstein, M
    Furman, N
    Shomrat, R
    Orr-Urtreger, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 302 - 302
  • [46] Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features
    Aradhya, Swaroop
    Manning, Melanie A.
    Splendore, Alessandra
    Cherry, Athena M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (13) : 1431 - 1441
  • [47] Application of array comparative genomic hybridization (array- CGH) for detection of chromosomal imbalances in children with developmental delay/congenital malformations in Saudi Arabia
    Ibtessam Ramzi Hussein
    Adeel G. Chaudhary
    Randa Bassiouni
    Maha AlQuaiti
    Samira Sogaty
    Mohammed Al-Qahtani
    BMC Genomics, 15 (Suppl 2)
  • [48] Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    Shaw-Smith, C
    Redon, R
    Rickman, L
    Rio, M
    Willatt, L
    Fiegler, H
    Firth, H
    Sanlaville, D
    Winter, R
    Colleaux, L
    Bobrow, M
    Carter, NP
    JOURNAL OF MEDICAL GENETICS, 2004, 41 (04) : 241 - 248
  • [49] Validation of a High Resolution Whole Genome Array CGH Platform for the Detection of Copy Number Changes in Patients with Developmental Delay Congenital Anomalies and Autism
    Gliem, T. J.
    Keefe, J.
    Wiktor, A.
    Thorand, E. C.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2010, 12 (06): : 864 - 864
  • [50] Application of array-CGH for the detection of submicroscopic chromosomal imbalances in 400 cases of children with idiopathic learning disability and congenital malformations
    Sharkey, Freddie
    Wilkie, N.
    Maher, E.
    FitzPatrick, D.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 : S19 - S19