Periventricular heterotopia in common microdeletion syndromes.

Molecular Syndromology
M van KogelenbergStephen P Robertson

Abstract

Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neurons lining the walls of the cerebral ventricles. Mutations in FLNA account for 20-24% of instances but a majority have no identifiable genetic aetiology. Often the co-occurrence of PH with a chromosomal anomaly is used to infer a new locus for a Mendelian form of PH. This study reports four PH patients with three different microdeletion syndromes, each characterised by high-resolution genomic microarray. In three patients the deletions at 1p36 and 22q11 are conventional in size, whilst a fourth child had a deletion at 7q11.23 that was larger in extent than is typically seen in Williams syndrome. Although some instances of PH associated with chromosomal deletions could be attributed to the unmasking of a recessive allele or be indicative of more prevalent subclinical migrational anomalies, the rarity of PH in these three microdeletion syndromes and the description of other non-recurrent chromosomal defects do suggest that PH may be a manifestation of multiple different forms of chromosomal imbalance. In many, but possibly not all, instances the co-occurrence of PH with a chromosomal deletion is not necessarily indicative of uncha...Continue Reading

References

Jan 1, 1997·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·E MercuriG Bydder
Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Jul 3, 2003·American Journal of Medical Genetics. Part a·A Dean StockHolly H Hobart
Sep 1, 2004·Human Genetics·Katherine L LachlanN Simon Thomas
Oct 26, 2005·Human Molecular Genetics·Lisenka E L M VissersHan G Brunner
Mar 1, 2006·Pediatric Neurology·Hiroshi OzawaNobuo Sakura
May 9, 2006·Neurology India·T K BanerjeeB Ghosh
May 11, 2006·Brain : a Journal of Neurology·E ParriniR Guerrini
May 13, 2006·American Journal of Medical Genetics. Part a·Russell J FerlandVolney L Sheen
Jul 13, 2006·American Journal of Medical Genetics. Part a·Jason NealVolney L Sheen
Aug 23, 2006·Neurology·F MoroR Guerrini
Oct 13, 2006·American Journal of Medical Genetics. Part a·Nathaniel H RobinWilliam B Dobyns
Jun 15, 2007·Pediatric Neurology·Martino RuggieriPaola Iannetti
Sep 19, 2007·Arquivos de neuro-psiquiatria·Mônica Jaques SpinosaAlfredo Löhr
Oct 9, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marzena GajeckaLisa G Shaffer
Feb 5, 2008·European Journal of Medical Genetics·Katarzyna Gawlik-KuklinskaJanusz Limon
Apr 4, 2008·Developmental Medicine and Child Neurology·Salvatore GrossoPaolo Balestri
May 17, 2008·Cerebral Cortex·T R KiehlA S Bassett
Jun 7, 2008·American Journal of Medical Genetics. Part a·William B DobynsLisa G Shaffer
Jun 21, 2008·American Journal of Human Genetics·Christian R MarshallLucy R Osborne

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Citations

Sep 24, 2013·Brain : a Journal of Neurology·Valerio ContiRenzo Guerrini
Jun 7, 2014·Epilepsia·Carmen BarbaRenzo Guerrini
Oct 7, 2015·American Journal of Medical Genetics. Part a·Francesco NicitaAlberto Verrotti
Jul 5, 2013·American Journal of Medical Genetics. Part a·Alrun HotzDeborah J Morris-Rosendahl
Dec 30, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Janel O JohnsonAndrew B Singleton
May 3, 2014·American Journal of Medical Genetics. Part a·Idit MayaHagit N Baris
Sep 27, 2014·American Journal of Medical Genetics. Part a·Valeria CapraRenzo Guerrini
Apr 14, 2015·Progress in Neurobiology·Daniel W MeechanAnthony-S LaMantia
Sep 28, 2016·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Tally Lerman-Sagie, Zvi Leibovitz
Apr 24, 2018·American Journal of Medical Genetics. Part a·Paul KruszkaMaximilian Muenke
Nov 28, 2018·Annals of Clinical and Translational Neurology·Arezoo RezazadehDanielle M Andrade
Jul 31, 2019·Molecular Psychiatry·Julio E Villalón-ReinaCarrie E Bearden

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