Chromosome 11q13 deletion syndrome

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

Research output: Contribution to journalArticle

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 1

Fingerprint

Chromosome Deletion
Tooth
Tooth Abnormalities
High-Frequency Hearing Loss
Eye Abnormalities
Coloboma
Nucleic Acid Hybridization
Microcephaly
Dentition
Dental Care
Palate
Sensorineural Hearing Loss
Long-Term Care
Deafness
Eyelids
Hearing
Ear
Hand
Chromosomes
Otodental Dysplasia

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pediatrics

Cite this

Chromosome 11q13 deletion syndrome. / Kim, Yu Seon; Kim, Gun Ha; Byeon, Jung Hye; Eun, So-Hee; Eun, Baik-Lin.

In: Korean Journal of Pediatrics, Vol. 59, 01.11.2016, p. S10-S13.

Research output: Contribution to journalArticle

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