Another patient with 12q13 microduplication.

[wolf-hirschhorn syndrome]

Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition . While several reports describe distal 12 q duplication , only one case report of homogeneous , non-mosaic interstitial 12 q 13 duplication has been documented to date . The authors of that observation proposed that the associated phenotype represented a phenocopy of Wolf-Hirschhorn syndrome [Dallapiccola et al ., 2009 ]. Only a few other recorded patients with deletion 12 q 13 â†’ 12 q 21 involved mosaicism . We describe a new patient with homogeneous 12 q 13 duplication in a 6 -year -old girl who , in early infancy , presented with dysmorphic features suggesting Wolf-Hirschhorn syndrome . What is potentially significant about this patient is that her facial phenotype evolved with age , suggesting a different gestalt in older patients .

Diseases
Validation

Diseases presenting "facial phenotype" symptom

cohen syndrome

oligodontia

proteus syndrome

wolf-hirschhorn syndrome

You can validate or delete this automatically detected symptom