Literature DB >> 24798351

Neurophysiological findings in a newborn with chromosome 10 trisomy.

Simone Vidale1, Franco Di Palma, Luigi Sironi, Marco Arnaboldi.   

Abstract

The trisomy of the short arm of chromosome 10 is a rare condition. The phenotypic expression of this genetic aberration is characterised by growth and mental retardation with several neurological signs. We report the neurophysiological findings in a newborn affected by 10p chromosome trisomy who developed seizures. Serial EEGs showed a progressive reduction in burst-suppression activity and a slow rhythmic basal activity. At 1 year of age the recording showed for the first time spikes of high amplitude (up to 800 μV) in bilateral frontal regions. These findings could be related to an asymmetrical cerebral maturation in the context of perinatal sufferance and brain malformation due to the genetic aberration.

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Year:  2014        PMID: 24798351      PMCID: PMC4024529          DOI: 10.1136/bcr-2013-010222

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  7 in total

1.  Pure trisomy 10p involving an isochromosome 10p.

Authors:  S A Berend; L G Shaffer; B A Bejjani
Journal:  Clin Genet       Date:  1999-05       Impact factor: 4.438

2.  Report of the third international workshop on human chromosome 10 mapping and sequencing 1999.

Authors:  P Deloukas; L French; T Meitinger; N K Moschonas
Journal:  Cytogenet Cell Genet       Date:  2000

Review 3.  Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.

Authors:  A Mégarbané; P Gosset; N Souraty; J M Lapierre; R Korban; L Zahed; L Samaras; M Vekemans; M Prieur
Journal:  Am J Med Genet       Date:  2001-12-01

Review 4.  Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.

Authors:  E Blennow; E Tillberg
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

5.  Brother and sister with trisomy 10p: a new syndrome.

Authors:  E Schleiermacher; U Schliebitz; C Steffens
Journal:  Humangenetik       Date:  1974

6.  Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.

Authors:  I Kondo; Y Shimakura; T Hirano; M Kaneko; K Yabuta
Journal:  Clin Genet       Date:  1984-02       Impact factor: 4.438

Review 7.  Deletion of the short arm of chromosome 10 (10p13): report of a patient and review.

Authors:  M Shapira; Z Borochowitz; H Bar-El; H Dar; A Etzioni; A Lorber
Journal:  Am J Med Genet       Date:  1994-08-01
  7 in total

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