Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

2007 ◽  
Vol 45 (3) ◽  
pp. 187-189 ◽  
Author(s):  
C Orellana ◽  
J Bernabeu ◽  
S Monfort ◽  
M Rosello ◽  
S Oltra ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Phenotypic Spectrum

scholarly journals Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

2009 ◽  
Vol 2009 (jan21 1) ◽  
pp. bcr0820080665-bcr0820080665
Author(s):  
C Orellana ◽  
J. Bernabeu ◽  
S. Monfort ◽  
M. Rosello ◽  
J. S. Oltra ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Phenotypic Spectrum

scholarly journals Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

2009 ◽  
Vol 2009 (jul05 1) ◽  
pp. bcr0620091996-bcr0620091996
Author(s):  
C Orellana ◽  
J Bernabeu ◽  
S Monfort ◽  
M Rosello ◽  
S Oltra ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Phenotypic Spectrum

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotypic Spectrum

scholarly journals Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

2020 ◽  
Vol 11 ◽  
Author(s):  
Parham Habibzadeh ◽  
Zahra Tabatabaei ◽  
Soroor Inaloo ◽  
Muhammad Mahdi Nashatizadeh ◽  
Matthis Synofzik ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Deletion Mutation ◽  
Sensorimotor Neuropathy ◽  
Spastic Ataxia ◽  
Phenotypic Spectrum ◽  
Iranian Family ◽  
Biallelic Mutations

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.

scholarly journals Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

2021 ◽  
Author(s):  
Ramona Cordani ◽  
Livia Pisciotta ◽  
Maria Margherita Mancardi ◽  
Michela Stagnaro ◽  
Giulia Prato ◽  
...  
Keyword(s):  
Case Report ◽  
Neurological Disease ◽  
Neurological Deficits ◽  
Loss Of Consciousness ◽  
Gene Variants ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum ◽  
Genetics And Genomics ◽  
Epilepsy Gene ◽  
Main Clinical Manifestation

AbstractAlternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.

Microdeletion 4p16.3 that includes Wolf-Hirschhorn syndrome critical region – A case report

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
KS Brocke ◽  
K Hackmann ◽  
S Tinschert ◽  
K Prokop ◽  
C Ikonomidou ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region

scholarly journals Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report

2017 ◽  
Vol 13 (6) ◽  
pp. 3494-3496 ◽  
Author(s):  
George Imataka ◽  
Yoshiyuki Watabe ◽  
Sayuri Kajitani ◽  
Shun Watanabe ◽  
Junko Ichikawa ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
De Novo ◽  
Duplication Syndrome

scholarly journals Case Report Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13

2013 ◽  
Vol 12 (2) ◽  
pp. 1311-1317 ◽  
Author(s):  
P.-H. Su ◽  
C.-P. Chen ◽  
Y.-N. Su ◽  
S.-J. Chen ◽  
L.-L. Lin ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Ring Chromosome ◽  
Chromosome 13

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

2011 ◽  
Vol 133 (1) ◽  
pp. 78-83 ◽  
Author(s):  
R. Quiroga ◽  
S. Monfort ◽  
S. Oltra ◽  
I. Ferrer-Bolufer ◽  
M. Roselló ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Partial Duplication ◽  
Normal Phenotype ◽  
Edwards Syndrome

Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

2011 ◽  
Vol 54 (4) ◽  
pp. e446-e450 ◽  
Author(s):  
Lilia Kraoua ◽  
Myriam Chaabouni ◽  
Elisabeth Ewers ◽  
Imen Chelly ◽  
Ines Ouertani ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Oca2 Gene
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