Classical West "syndrome" phenotype with a subtelomeric 4p trisomy

American Journal of Medical Genetics. Part a
Marion Gérard-BlanluetE Borghi

Abstract

We report a girl with mild mental retardation with onset of infantile spasms at age of 9 months. Treatment with a short course of adrenocorticotropic hormone (ACTH) was successful. Initially, a diagnosis of idiopathic West syndrome, with good neurological outcome and disappearance of epilepsy after treatment, was made. Conventional karyotype was normal. Reinvestigations were done at age 8 years, because of a new pregnancy. Karyotyping of both parents was done because of mild dysmorphic features in the proband, and to eliminate other causes than early age epilepsy as the etiology of her mental retardation. Parental karyotypes showed a balanced paternal translocation (4p;17q) resulting in partial 4p trisomy, without significant 17q monosomy in the proband. Chromosomal abnormalities usually lead to a severe West syndrome with poor prognosis of neurological outcome (persistent severe epilepsy, mental retardation, and behavioral disturbances). The presence of an undetected cytogenetic anomaly in our proband with transient hypsarythmia is unusual and led us to propose systematic telomeric screening in apparently "idiopathic" West syndrome patients with mild mental retardation and subtle dysmorphic features.

References

Sep 1, 1991·The Japanese Journal of Psychiatry and Neurology·O KanazawaI Kawai
Mar 1, 1994·Genes, Chromosomes & Cancer·S P RomanaR Berger
Jun 1, 1995·Epilepsia·R Sidenvall, O Eeg-Olofsson
Jun 1, 1995·European Journal of Pediatrics·S V PatelR S Verma
Jul 1, 1994·Developmental Medicine and Child Neurology·C E Stafstrom, R J Konkol
Sep 1, 1996·Pediatric Neurology·P M BinghamP F Chance
Aug 31, 1999·Clinical Genetics·T KuboH Takahashi
Jun 14, 2000·Journal of Medical Genetics·S J Knight, J Flint
Feb 24, 2001·American Journal of Medical Genetics·J P Fryns
Jul 27, 2001·American Journal of Medical Genetics·P D CotterK Hirschhorn
May 9, 2003·American Journal of Human Genetics·Vera M KalscheuerJozef Gécz

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Citations

Jun 23, 2011·European Journal of Human Genetics : EJHG·Alex R PaciorkowskiWilliam B Dobyns
Dec 24, 2011·Genetic Testing and Molecular Biomarkers·Farmaditya E P MundhofirHelger G Yntema
Feb 26, 2010·Italian Journal of Pediatrics·Alberto Fois
Mar 18, 2011·American Journal of Medical Genetics. Part a·Erin P Carmany, Erawati V Bawle
Feb 25, 2006·Epilepsy & Behavior : E&B·Melodie R Winawer
May 17, 2005·Prenatal Diagnosis
Nov 1, 2005·Prenatal Diagnosis·J M LevaillantM Gérard-Blanluet
Nov 1, 2015·Arquivos de neuro-psiquiatria·Marina C GonsalesIscia Lopes-Cendes

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