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Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization.
Am. J. Med. Genet. A 149A, 2106-2112 (2009)
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
16p11.2-p12.2 ; Ear Infection ; Facial Manifestation ; Feeding Problems ; Microdeletion ; Snp Oligonucleotide Array ; Speech Delay
ISSN (print) / ISBN
0148-7299
e-ISSN
1096-8628
Zeitschrift
American Journal of Medical Genetics, Part A
Quellenangaben
Band: 149A,
Heft: 10,
Seiten: 2106-2112
Verlag
Wiley
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)