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

• Published in: Hormone research in paediatrics Vol. 86; no. 5; p. 330
• Main Authors: Grandone, Anna, Del Vecchio Blanco, Francesca, Torella, Annalaura, Caruso, Manuela, De Luca, Filippo, Di Mase, Raffaella, Messina, Maria Francesca, Salerno, Maria Carolina, Sallemi, Alessia, Perone, Lucia, Marzuillo, Pierluigi, Miraglia Del Giudice, Emanuele, Nigro, Vincenzo, Perrone, Laura
• Format: Journal Article
• Language: English
• Published: Switzerland 01.01.2016
• Subjects: Child; Child, Preschool; Chromosomes, Human, X - genetics; Female; Growth Disorders - diagnosis; Growth Disorders - genetics; Humans; Mosaicism; Multiplex Polymerase Chain Reaction - methods; Pilot Projects; Turner Syndrome - diagnosis; Turner Syndrome - genetics

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...