Chromosome 11q13 deletion syndrome

Yu Seon Kim, Gun Ha Kim, Jung Hye Byeon, So Hee Eun, Baik Lin Eun

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)S10-S13
JournalKorean Journal of Pediatrics
Volume59
DOIs
Publication statusPublished - 2016 Nov

Keywords

  • Chromosome 11q13
  • Coloboma
  • Hearing loss
  • Otodental syndrome
  • Tooth abnormalities

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pediatrics

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