PCR protocol to detect parental origin and hidden mosaicism in sex chromosome aneuploidies

Olga Martínez-Pasarell, Cristina Templado, Josep Egozcue, Enric Vicens-Calvet, Carme Nogués Sanmiquel

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9 Citations (Scopus)

Abstract

In this study, we report an accurate method to determine the parental origin of sex chromosome aneuploidies or polyploidies and to detect low percentage mosaicisms. We have amplified by polymerase chain reaction (PCR) five polymorphic markers along the X chromosome (DXS1283E, DYS II, DMD49, AR and DXS52) and three markers along the Y chromosome (SRY, DYZ3 and DYZ1). False-negative results were discarded by the simultaneous amplification of Y markers and of internal controls. We have applied this protocol to a series of 14 Turner syndrome patients with a 45,X karyotype. We have detected sex chromosome mosaicisms in two patients. The parental origin of the syndrome has been determined in the other 12 patients.
Original languageEnglish
Pages (from-to)248-252
JournalHormone Research
Volume51
DOIs
Publication statusPublished - 17 Nov 1999

Keywords

  • Mosaicism
  • Parental origin
  • Polymerase chain reaction
  • Sex chromosome aneuploidy

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