Deletion of 18q

  • A. J. Larner
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-29676-8_463

Synonyms

Chromosome 18q deletion syndrome; de Grouchy syndrome; 18q- syndrome; OMIM#601808

Definition and Characteristics

Deletion of the long arm of chromosome 18 produces a multiple-anomaly mental retardation syndrome of variable phenotype encompassing: learning disability, sometimes with non-development of language, short stature, and variable dysmorphism, such as microcephaly, mid-facial hypoplasia, prominent antihelix, and long tapering fingers [1]. Hearing loss, sensorineural or conductive, is common, the latter due to congenital aural atresia. Neurological symptoms and signs, such as hypotonia, nystagmus and incoordination, are also common [2]. Movement disorders such as tremor and dystonia have been reported, as have seizure disorders of variable semiology, including complex partial seizures with prominent autonomic features, apnoeic seizures, and benign focal seizures, most usually with childhood onset but sometimes presenting in adults [3]. Autoimmune disorders have been...

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References

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    Adab N, Larner AJ (2006) J Neurol 253:527–528PubMedGoogle Scholar
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    Vogel H, Urich H, Horoupian DS et al. (1990) Dev Med Child Neurol 32:732–737PubMedGoogle Scholar
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    Linnankivi TT, Autti TH, Pihko SH et al. (2003) J Magn Reson Imaging 18:414–419PubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Berlin Heidelberg 2009

Authors and Affiliations

  • A. J. Larner
    • 1
  1. 1.Cognitive Function ClinicWalton Centre for Neurology and NeurosurgeryLiverpoolUK