Literature DB >> 30775046

Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.

Pinar Arican1, Nihal Olgac Dundar2, Berk Ozyilmaz3, Dilek Cavusoglu2, Pinar Gencpinar2, Kadri Murat Erdogan3, Merve Saka Guvenc3.   

Abstract

Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients. CMA analysis revealed pathogenic de novo CNVs, such as 11p13 duplication with new clinical features. Our results support the utility of CMA as a routine diagnostic test for unexplained DD/ID.

Entities:  

Keywords:  chromosomal microarray analysis; developmental delay; intellectual disability; microdeletion/microduplication

Year:  2018        PMID： 30775046      PMCID： PMC6375720          DOI： 10.1055/s-0038-1676583

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  26 in total

1.  Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.

Authors:  Blake C Ballif; Sara A Hornor; Scott G Sulpizio; Richard M Lloyd; Sara L Minier; Emily A Rorem; Aaron Theisen; Bassem A Bejjani; Lisa G Shaffer
Journal:  Genet Med       Date:  2007-03       Impact factor: 8.822

2.  3q29 interstitial microduplication: a new syndrome in a three-generation family.

Authors:  Emily C Lisi; Ada Hamosh; Kimberly F Doheny; Elizabeth Squibb; Barbara Jackson; Rebecca Galczynski; George H Thomas; Denise A S Batista
Journal:  Am J Med Genet A       Date:  2008-03-01       Impact factor: 2.802

3.  Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

Authors:  B W M van Bon; H C Mefford; B Menten; D A Koolen; A J Sharp; W M Nillesen; J W Innis; T J L de Ravel; C L Mercer; M Fichera; H Stewart; L E Connell; K Ounap; K Lachlan; B Castle; N Van der Aa; C van Ravenswaaij; M A Nobrega; C Serra-Juhé; I Simonic; N de Leeuw; R Pfundt; E M Bongers; C Baker; P Finnemore; S Huang; V K Maloney; J A Crolla; M van Kalmthout; M Elia; G Vandeweyer; J P Fryns; S Janssens; N Foulds; S Reitano; K Smith; S Parkel; B Loeys; C G Woods; A Oostra; F Speleman; A C Pereira; A Kurg; L Willatt; S J L Knight; J R Vermeesch; C Romano; J C Barber; G Mortier; L A Pérez-Jurado; F Kooy; H G Brunner; E E Eichler; T Kleefstra; B B A de Vries
Journal:  J Med Genet       Date:  2009-04-15       Impact factor: 6.318

4.  Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.

Authors:  S Yu; K Cox; K Friend; S Smith; R Buchheim; S Bain; J Liebelt; E Thompson; D Bratkovic
Journal:  Clin Genet       Date:  2007-12-12       Impact factor: 4.438

5.  Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Authors:  Francesca Fusco; Alessandra Pescatore; Elodie Bal; Aida Ghoul; Mariateresa Paciolla; Maria Brigida Lioi; Michele D'Urso; Smail Hadj Rabia; Christine Bodemer; Jean Paul Bonnefont; Arnold Munnich; Maria Giuseppina Miano; Asma Smahi; Matilde Valeria Ursini
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

6.  Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.

Authors:  S Xu; J C Han; A Morales; C M Menzie; K Williams; Y-S Fan
Journal:  Cytogenet Genome Res       Date:  2008-12-18       Impact factor: 1.636

7.  Myocyte enhancer factors 2A and 2C induce dilated cardiomyopathy in transgenic mice.

Authors:  Jian Xu; Nanling L Gong; Ilona Bodi; Bruce J Aronow; Peter H Backx; Jeffery D Molkentin
Journal:  J Biol Chem       Date:  2006-02-09       Impact factor: 5.157

8.  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Authors:  Marwan Shinawi; Pengfei Liu; Sung-Hae L Kang; Joseph Shen; John W Belmont; Daryl A Scott; Frank J Probst; William J Craigen; Brett H Graham; Amber Pursley; Gary Clark; Jennifer Lee; Monica Proud; Amber Stocco; Diana L Rodriguez; Beth A Kozel; Steven Sparagana; Elizabeth R Roeder; Susan G McGrew; Thaddeus W Kurczynski; Leslie J Allison; Stephen Amato; Sarah Savage; Ankita Patel; Pawel Stankiewicz; Arthur L Beaudet; Sau Wai Cheung; James R Lupski
Journal:  J Med Genet       Date:  2009-11-12       Impact factor: 6.318

9.  Association between microdeletion and microduplication at 16p11.2 and autism.

Authors:  Lauren A Weiss; Yiping Shen; Joshua M Korn; Dan E Arking; David T Miller; Ragnheidur Fossdal; Evald Saemundsen; Hreinn Stefansson; Manuel A R Ferreira; Todd Green; Orah S Platt; Douglas M Ruderfer; Christopher A Walsh; David Altshuler; Aravinda Chakravarti; Rudolph E Tanzi; Kari Stefansson; Susan L Santangelo; James F Gusella; Pamela Sklar; Bai-Lin Wu; Mark J Daly
Journal:  N Engl J Med       Date:  2008-01-09       Impact factor: 91.245

Review 10.  Microduplication 22q11.2: a new chromosomal syndrome.

Authors:  Marie-France Portnoï
Journal:  Eur J Med Genet       Date:  2009-02-28       Impact factor: 2.708
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.