A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: A case report and review of the literature

作者：Schwemmle Cornelia^*; Rost Imma; Spranger Stephanie; Jungheim Michael; Ptok Martin

来源：International Journal of Pediatric Otorhinolaryngology, 2014, 78(7): 1190-1193.

DOI：10.1016/j.ijporl.2014.03.031

• Microdeletion
• Chromosome 19p
• 19p13.2 deletion
• Mild mental retardation
• Mild sensorineural hearing loss

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.

• 出版日期2014-7