Journal article
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A van Haeringen, DE Fransen van de Putte, BM Anderlid, J Lundin, P Lapunzina, LA Pérez Jurado, B Delle Chiaie, B Loeys, B Menten, A Oostra, H Verhelst, DJ Amor, DL Bruno, AJ van Essen, R Hordijk, B Sikkema-Raddatz, KT Verbruggen Show all
European Journal of Medical Genetics | ELSEVIER SCIENCE BV | Published : 2009
Abstract
Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of a number of new microdeletion and microduplication syndromes. Recently, a recurrent copy number variant (CNV) at chromosome 16p11.2 was reported to occur in up to 1% of autistic patients in three large autism studies. In the screening of 4284 patients with MR/MCA with various array platforms, we detected 22 individuals (14 index patients and 8 family members) with deletions in 16p11.2, which are genomically identical to those identified in the autism studies. Though some patients shared a facial resemblance and..
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