title: Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled. All subjects underwent MLPA and karyotype analysis. In the TS and Short-Stature Groups, MLPA testing was performed in blind.
  
  
  RESULTS
  The choice of an MLPA threshold ratio of 0.76 for at least 1 probe allowed us to detect all TS cases, including mosaicisms. Sensitivity and specificity were 100% (CI 95%, 0.92-1) and 88.89% (CI 95%, 0.79-0.94), respectively. The positive predictive value was 88.5%, and the negative predictive value was 100%. MLPA detected the presence of Y chromosome material in 2 patients.
  
  
  CONCLUSIONS
  MLPA is an accurate and inexpensive tool to screen for TS in girls with short stature. A customized MLPA kit may be useful for the screening of an even larger population.
authors: Dipartimento della Donna, del Bambino, di Chirurgia Generale e Specialistica, Seconda Università degli Studi di Napoli, Naples, Italy.
authors: Anna
authors: A
authors: Grandone
authors: Francesca
authors: F
authors: Del Vecchio Blanco
authors: Annalaura
authors: A
authors: Torella
authors: Manuela
authors: M
authors: Caruso
authors: Filippo
authors: F
authors: De Luca
authors: Raffaella
authors: R
authors: Di Mase
authors: Maria Francesca
authors: MF
authors: Messina
authors: Maria Carolina
authors: MC
authors: Salerno
authors: Alessia
authors: A
authors: Sallemi
authors: Lucia
authors: L
authors: Perone
authors: Pierluigi
authors: P
authors: Marzuillo
authors: Emanuele
authors: E
authors: Miraglia Del Giudice
authors: Vincenzo
authors: V
authors: Nigro
authors: Laura
authors: L
authors: Perrone
mesh_terms: D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009030:Mosaicism; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D010865:Pilot Projects; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics