TY - JOUR
T1 - PCR protocol to detect parental origin and hidden mosaicism in sex chromosome aneuploidies
AU - Martínez-Pasarell, Olga
AU - Templado, Cristina
AU - Egozcue, Josep
AU - Vicens-Calvet, Enric
AU - Nogués Sanmiquel, Carme
PY - 1999/11/17
Y1 - 1999/11/17
N2 - 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.
AB - 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.
KW - Mosaicism
KW - Parental origin
KW - Polymerase chain reaction
KW - Sex chromosome aneuploidy
U2 - 10.1159/000023379
DO - 10.1159/000023379
M3 - Article
SN - 0301-0163
VL - 51
SP - 248
EP - 252
JO - Hormone Research
JF - Hormone Research
ER -