Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature | Zendy

Anna Grandone | Zendy; Francesca Del Vecchio Blanco | Zendy; Annalaura Torella | Zendy; Manuela Caruso | Zendy; Filippo De Luca | Zendy; Raffaella Di Mase | Zendy; Maria Francesca Messina | Zendy; Maria Carolina Salerno | Zendy; Alessia Sallemi | Zendy; Lucia Perone | Zendy; Pierluigi Marzuillo | Zendy; Emanuele Miraglia del Giudice | Zendy; Vincenzo Nigro | Zendy; Laura Perrone | Zendy

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Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

Author(s) -

Anna Grandone,

Francesca Del Vecchio Blanco,

Annalaura Torella,

Manuela Caruso,

Filippo De Luca,

Raffaella Di Mase,

Maria Francesca Messina,

Maria Carolina Salerno,

Alessia Sallemi,

Lucia Perone,

Pierluigi Marzuillo,

Emanuele Miraglia del Giudice,

Vincenzo Nigro,

Laura Perrone

Publication year - 2016

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000452219

Subject(s) - multiplex ligation dependent probe amplification , turner syndrome , short stature , medicine , multiplex , population , idiopathic short stature , pediatrics , endocrinology , genetics , biology , growth hormone , environmental health , gene , hormone , exon

We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity.

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