Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Bijlsma, E K; Gijsbers, A C J; Schuurs-Hoeijmakers, J H M; Haeringen, A; van de Putte, D E F.; Anderlid, B M; Lundin, J; Lapunzina, P; Jurado, L A P.; Chiaie, B. D.; Loeys, B.; Menten, B.; Oostra, A.; Verhelst, H.; Amor, D J; Bruno, D L; Essen, A J; Hordijk, R; Sikkema-Raddatz, B; Verbruggen, K T; Jongmans, M C J; Pfundt, R; Reeser, H M; Breuning, M H; and Ruivenkamp, C A L European journal of medical genetics, 52(2-3):77--87.
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. [link]Paper  abstract   bibtex   
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 a tendency to overweight, there was no evidence for a recognizable phenotype. Autism was not the presenting feature in our series. The assembled evidence indicates that recurrent 16p11.2 deletions are associated with variable clinical outcome, most likely arising from haploinsufficiency of one or more genes. The phenotypical spectrum ranges from MR and/or MCA, autism, learning and speech problems, to a normal phenotype.
@article{ Bijlsma,
  author    = {E K Bijlsma and A C J Gijsbers and J H M Schuurs-Hoeijmakers and A Haeringen and D E Fransen van de Putte and B M Anderlid and J Lundin and P Lapunzina and L A Pérez Jurado and Barbara Delle Chiaie and Bart Loeys and Björn Menten and Ann Oostra and Helene Verhelst and D J Amor and D L Bruno and A J Essen and R Hordijk and B Sikkema-Raddatz and K T Verbruggen and M C J Jongmans and R Pfundt and H M Reeser and M H Breuning and C A L Ruivenkamp},
  title     = {Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.},
  journal   = {European journal of medical genetics}, 
  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 a tendency to overweight, there was no evidence for a recognizable phenotype. Autism was not the presenting feature in our series. The assembled evidence indicates that recurrent 16p11.2 deletions are associated with variable clinical outcome, most likely arising from haploinsufficiency of one or more genes. The phenotypical spectrum ranges from MR and/or MCA, autism, learning and speech problems, to a normal phenotype.},
  issn   = {1878-0849},
  pages   = {77--87},
  volume   = {52},
  number   = {2-3},
  url   = {http://www.ncbi.nlm.nih.gov/pubmed/19306953}
}
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