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
De Grouchy J, Royer P, Salmon C, Lamy M (1964) Pathol Biol 12:579–582
Miller G, Mowrey PN, Hopper KD et al. (1990) Am J Med Genet 37:128–132
Adab N, Larner AJ (2006) J Neurol 253:527–528
Vogel H, Urich H, Horoupian DS et al. (1990) Dev Med Child Neurol 32:732–737
Linnankivi TT, Autti TH, Pihko SH et al. (2003) J Magn Reson Imaging 18:414–419
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Larner, A.J. (2009). Deletion of 18q. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_463
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DOI: https://doi.org/10.1007/978-3-540-29676-8_463
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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