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Hempel, M. ; Rivera-Brugues, N. ; Wagenstaller, J. ; Lederer, G.* ; Weitensteiner, A.* ; Seidel, H.* ; Meitinger, T. ; Strom, T.M.

Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization.

Am. J. Med. Genet. A 149A, 2106-2112 (2009)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.
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Publication type Article: Journal article
Document type Scientific Article
Keywords 16p11.2-p12.2 ; Ear Infection ; Facial Manifestation ; Feeding Problems ; Microdeletion ; Snp Oligonucleotide Array ; Speech Delay
ISSN (print) / ISBN 1552-4825
e-ISSN 1552-4833
Journal American Journal of Medical Genetics, Part A
Quellenangaben Volume: 149A, Issue: 10, Pages: 2106-2112 Article Number: , Supplement: ,
Publisher Wiley
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)