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impe0096p104 | Growth and Syndromes | IMPE2023

Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.

Barbara Casali , Paula Scaglia , Azcoiti María Esnaola , Débora Braslavsky , Nora Sanguineti , Romina Armando , Florencia Villegas , Ana Keselman , Analia Freire , Romina Grinspon , Mariana Vilas , Sandra Rosental , Claudia Arberas , Ignacio Bergadá , Gabriela Ropelato

Introduction: MS-MLPA is a specific and sensitive technique for detecting copy number variants and methylation defects in the regions of interest associated with imprinting diseases as Beckwith-Wiedemann (BWS) and Silver Russell (SRS) syndromes and. Both are growth disorders associated with opposite molecular alterations in the 11p15.5 imprinting locus.Aim: To analyze the diagnostic efficiency of MS-MLPA in a cohort of p...

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impe0096p94 | Growth and Syndromes | IMPE2023

Potentially pathogenic variants identified by next-generation sequencing in patients with short stature of unknown origin.

Sanguineti Nora , Scaglia Paula , Keselman Ana , Braslavsky Débora , Casali Bárbara , Gabriela Ballerini María , Esnaola Azcoiti María , Armando Romina , Villegas Florencia , del Carmen Fernández María , Correa Lourdes , Martin Ayelen , Ramirez Laura , Landi Estefanía , Izquierdo Agustín , Rosenbrock Solange , Del Rey Graciela , Domené Sabina , Pennisi Patricia , Jasper Hector , Arberas Claudia , Gabriela Ropelato María , Rey Rodolfo , Bergadá Ignacio

Introduction: Short Stature (SS), defined as height below -2 SD, is a common reason for referral to pediatric endocrinologists. Genetic factors determine ~80% of adult height. Lately, next-generation sequencing (NGS) has led to the discovery of an increasing number of novel monogenic causes for SS.Objective: The aim of this work was to identify the genetic etiology of SS of unknown origin (SSUO) in children.<p class=...

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impe0096p99 | Growth and Syndromes | IMPE2023

Next generation sequencing implementation for the diagnosis of endocrine disorders: 4 years-experience in a public paediatric hospital

Scaglia Paula , Esnaola Azcoiti María , Izquierdo Agustín , Correa Brito Lourdes , Maier Marianela , Sanso Gabriela , Casali Bárbara , Villegas Florencia , Armando Romina , Sanguineti Nora , Brunello Franco , Rozental Sandra , Raffo Diego , Rosenbrock Solange , Gabriela Ballerini María , Boywitt Adriana , Castro Sebastián , Braslavsky Débora , Freire Analía , Enacan Rosa , Clement Florencia , Grinspon Romina , Keselman Ana , Gryngarten Mirta , Arcari Andrea , Vieites Ana , Chiesa Ana , Papendieck Patricia , del Carmen Fernández María , Martí Marcelo , Arberas Claudia , Bergadá Ignacio , Rey Rodolfo , Gabriela Ropelato María

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...

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IMPE Abstracts

Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.

Potentially pathogenic variants identified by next-generation sequencing in patients with short stature of unknown origin.

Next generation sequencing implementation for the diagnosis of endocrine disorders: 4 years-experience in a public paediatric hospital

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