Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Chromosome 11q13 deletion syndrome

  • Kim, Yu-Seon (Department of Pediatrics, Korea University College of Medicine) ;
  • Kim, Gun-Ha (Department of Pediatrics, Korea University College of Medicine) ;
  • Byeon, Jung Hye (Department of Pediatrics, Korea University College of Medicine) ;
  • Eun, So-Hee (Department of Pediatrics, Korea University College of Medicine) ;
  • Eun, Baik-Lin (Department of Pediatrics, Korea University College of Medicine)
  • 투고 : 2014.08.28
  • 심사 : 2014.10.20
  • 발행 : 2016.11.15
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초록

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-comparative 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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참고문헌

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