Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Author:

Bartnik Magdalena,Nowakowska Beata,Derwińska Katarzyna,Wiśniowiecka-Kowalnik Barbara,Kędzior Marta,Bernaciak Joanna,Ziemkiewicz Kamila,Gambin Tomasz,Sykulski Maciej,Bezniakow Natalia,Korniszewski Lech,Kutkowska-Kaźmierczak Anna,Klapecki Jakub,Szczałuba Krzysztof,Shaw Chad A.,Mazurczak Tadeusz,Gambin Anna,Obersztyn Ewa,Bocian Ewa,Stankiewicz Paweł

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Reference60 articles.

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2. Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC (2013) Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol (in press)

3. Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D (2010) Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. J Med Genet 47:377–384

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