Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4112591 | International Journal of Pediatric Otorhinolaryngology | 2014 | 4 Pages |
Abstract
The investigation of patients with congenital anomalies and/or intellectual disability with modern genetic methods allows the recognition of an increasing number of cases with these chromosomal rearrangements. Here, we present a mildly mentally retarded boy with mild facial dysmorphism, language development delay, mild sensorineural hearing loss due to a deletion of 1,14 Mb on chromosome 19p 13.2. The deletion was de novo and familial history negative for this disorder. To our knowledge this is the first description of a patient with symptoms mentioned above associated with a 19p13.2-p13.2 deletion.
Keywords
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Otorhinolaryngology and Facial Plastic Surgery
Authors
Cornelia Schwemmle, Imma Rost, Stephanie Spranger, Michael Jungheim, Martin Ptok,