Ring 14 chromosome: association with seizures

American Journal of Medical Genetics
B M Lippe, R S Sparkes

Abstract

A one-year-old male with seizures and developmental delay was found to have a ring 14 chromosome without a major band deletion. This brings the number of documented r(14) cases to seven. These patients have focal cerebral atrophy with seizures as their dominant manifestation, together with few minor facial anomalies. This combination suggests that abnormalities in the 14 chromosome may result in rather nonspecific central nervous system maldevelopment and dysfunction and raises the possibility that unexplained seizures with minor anomalies and mental retardation may warrant chromosome investigation.

References

Oct 30, 1971·Lancet·M Seabright
Jan 1, 1980·Human Genetics·A P AmaroseS Csaszar
Jul 18, 1980·Science·A P StreissguthD W Smith

❮ Previous
Next ❯

Citations

Oct 1, 1988·Human Genetics·P J HowardJ Dearlove
Aug 16, 2003·Epilepsia·Masafumi MorimotoTohru Sugimoto
Apr 1, 1983·Journal of Medical Genetics·S J Hreidarsson, J Stamberg
Jul 1, 1992·Brain & Development·Y ShirasakaH Mikawa
May 7, 2009·Developmental Medicine and Child Neurology·Dorothée VilleVincent DES Portes
Apr 6, 2005·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·N Bahi-BuissonC Chiron
Nov 20, 2012·Epilepsy & Behavior : E&B·Nicola SpecchioFederico Vigevano
Feb 22, 2012·European Journal of Medical Genetics·Grace J NohJohn M Graham
Aug 24, 2007·Journal of Child Neurology·Meropi TzoufiMaria Syrrou
Jun 15, 2004·Clinical Dysmorphology·V McConnellP J Morrison
Jul 22, 2010·Nature Reviews. Neurology·Deb K PalWendy K Chung
Mar 1, 1983·Jinrui idengaku zasshi. The Japanese journal of human genetics·A IeshimaK Yamamoto
Oct 21, 1999·Epilepsia·L N KunT T Lian
Aug 1, 1990·American Journal of Medical Genetics·R MatalonI M Rosenthal
Dec 7, 2000·Mental Retardation and Developmental Disabilities Research Reviews·F A LadoS L Moshé
Jun 1, 1989·Arquivos de neuro-psiquiatria·M H DuarteR M Fernandes

❮ Previous
Next ❯

Related Concepts

Related Feeds

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.

Related Papers

Journal of Medical Genetics
R SchmidtS Miranda
American Journal of Medical Genetics
R MatalonI M Rosenthal
Acta paediatrica Scandinavica
L IseliusO Eklöf
© 2021 Meta ULC. All rights reserved