scholarly journals Temple syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Temple Syndrome

Molecular characterization of temple syndrome families with 14q32 epimutations

2020 ◽  
Vol 63 (12) ◽  
pp. 104077 ◽  
Author(s):  
Johanna Brück ◽  
Matthias Begemann ◽  
Daniela Dey ◽  
Miriam Elbracht ◽  
Thomas Eggermann
Keyword(s):  
Molecular Characterization ◽  
Temple Syndrome

scholarly journals Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

2018 ◽  
Vol 7 (1) ◽  
pp. 15-18
Author(s):  
Takuro Kimura ◽  
Masayo Kagami ◽  
Keiko Matsubara ◽  
Shuichi Yatsuga ◽  
Rio Mukasa ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Adult Patient ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Temple Syndrome

scholarly journals Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

2015 ◽  
Vol 170 (1) ◽  
pp. 170-175 ◽  
Author(s):  
Tracy A. Briggs ◽  
Kemi Lokulo-Sodipe ◽  
Kate E. Chandler ◽  
Deborah J. G. Mackay ◽  
I. Karen Temple
Keyword(s):  
Temple Syndrome

scholarly journals New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

2017 ◽  
Vol 25 (8) ◽  
pp. 935-945 ◽  
Author(s):  
Jasmin Beygo ◽  
Alma Küchler ◽  
Gabriele Gillessen-Kaesbach ◽  
Beate Albrecht ◽  
Jonas Eckle ◽  
...  
Keyword(s):  
Temple Syndrome ◽  
Molecular Description

scholarly journals Growth hormone improves short-term growth in patients with temple syndrome

2019 ◽  
Author(s):  
Brightman DS ◽  
Lokulo-Sodipe O ◽  
Searle B ◽  
Mackay DJG ◽  
Davies JH ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Term ◽  
Temple Syndrome

scholarly journals Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

2017 ◽  
Vol 8 (3) ◽  
pp. 131-138 ◽  
Author(s):  
Veronica Bertini ◽  
Antonella Fogli ◽  
Rossella Bruno ◽  
Alessia Azzarà ◽  
Angela Michelucci ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Temple Syndrome ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14

Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple

2021 ◽  
Vol 24 (5) ◽  
pp. 138-140
Author(s):  
Sara Dal Bo ◽  
Claudia Muratori ◽  
Chiara Nardini ◽  
Ilaria Donati ◽  
Anna Maria Magistà ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Uniparental Disomy ◽  
Final Diagnosis ◽  
Early Puberty ◽  
Maternal Uniparental Disomy ◽  
Feeding Difficulties ◽  
Intrauterine Growth ◽  
Imprinting Disorder ◽  
Development Delay ◽  
Temple Syndrome

Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardation, hypotonia, difficult feeding, development delay and precocious puberty. The absence of congenital pathognomonic malformations and universally recognized screening methodologies make this pathology be underdiagnosed, so the analysis of 14q32 should be evaluated in all cases of intrauterine growth restriction, hypotonia and neonatal feeding difficulties. It should also be considered in cases of unexplained early puberty associated with poor stature growth. The paper presents the case of a girl with the final diagnosis of Temple syndrome, with an initial picture of intrauterine growth retardation, axial hypotonia and feeding difficulties. The initial diagnostic suspicion was a Silver-Russell syndrome.

scholarly journals A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

2018 ◽  
Vol 9 (4) ◽  
pp. 182-189 ◽  
Author(s):  
Maria Yakoreva ◽  
Tiina Kahre ◽  
Sander Pajusalu ◽  
Piret Ilisson ◽  
Olga Žilina ◽  
...  
Keyword(s):  
Literature Review ◽  
Rare Combination ◽  
Temple Syndrome ◽  
Mosaic Trisomy
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