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Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization
Author(s) -
Hempel Maja,
Rivera Brugués Nuria,
Wagenstaller Janine,
Lederer Gaby,
Weitensteiner Andrea,
Seidel Heide,
Meitinger Thomas,
Strom Tim M.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33042
Subject(s) - microdeletion syndrome , autism , breakpoint , context (archaeology) , intellectual disability , copy number variation , genetics , medicine , biology , pediatrics , phenotype , psychiatry , gene , chromosome , genome , paleontology
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 ∼500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay. © 2009 Wiley‐Liss, Inc.