Microdeletion of 17q22q23.2 encompassing @entity72365 and XXXX in a @entity1 with @entity4242 , thyroid duct cyst, @entity1274 , and @entity120 .

@entity1 @entity10859 @entity154 @entity825 @entity72365 @entity4501 @entity851 @entity1152 @entity245 @entity72366 @entity299 @entity32968 @entity11677 @entity120 @entity1274 @entity4242
Microdeletions of the long arm of chromosome 17 are being reported with increasing frequency. Deletions of 17q22q23.2 may represent a genetically recognizable phenotype although its spectrum of genomic abnormalities, clinical manifestations, and critical regions are not fully delineated. Isolated reports and small case series suggest that deletions of 17q22q23.2 result in haploinsufficiency of dosage sensitive genes @entity32968 , @entity72365 , and @entity72366 , which may be responsible for many aspects of the phenotype. Shared clinical features in this group of @entity1 include @entity4242 , prenatal onset growth restriction, @entity299 , @entity4501 , and @entity1152 ( @entity10859 /EA), @entity154 , and moderate to severe @entity245 . We describe a female @entity1 who presented with severe @entity4242 , @entity11677 , @entity1274 , mild @entity825 , abnormal auricles, @entity120 , @entity245 , and postnatal onset @entity851 . She had no @entity10859 /EA or @entity299 . Using a high density oligonucleotide microarray, we identified a microdeletion at 17q22q23.2, resulting in the heterozygous loss of several genes, including @entity72365 and @entity72366 but not @entity32968 . The breakpoints did not lie within known segmental duplications. This case helps to further delineate the critical region for @entity10859 /EA, which is likely confined to the chromosomal region proximal to 17q23.1, and suggests that genes in 17q23.1q23.2 may be associated with @entity11677 . The role of @entity72365 and @entity72366 in @entity120 warrants investigation.
