Chromosome 11q13 deletion syndrome
- Authors
- Yu Seon Kim; Gun-Ha Kim; Jung Hye Byeon; So-Hee Eun; Baik-Lin Eun
- Issue Date
- 2016
- Publisher
- 대한소아청소년과학회
- Keywords
- Chromosome 11q13; Otodental syndrome; Tooth abnormalities; Hearing loss; Coloboma
- Citation
- Clinical and Experimental Pediatrics, v.59, pp 10 - 13
- Pages
- 4
- Journal Title
- Clinical and Experimental Pediatrics
- Volume
- 59
- Start Page
- 10
- End Page
- 13
- URI
- https://scholarworks.korea.ac.kr/kumedicine/handle/2020.sw.kumedicine/29797
- Abstract
- Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-com- parative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.
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Collections - 2. Clinical Science > Department of Pediatrics > 1. Journal Articles
- 5. Others > Others(Medicine) > 1. Journal Articles
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