TY - JOUR
T1 - Risk of false-positive prenatal diagnosis using interphase FISH testing
T2 - Hybridization of alpha-satellite X probe to chromosome 19
AU - Winsor, Elizabeth J.T.
AU - Dyack, Sarah
AU - Wood-Burgess, E. Martha
AU - Ryan, Greg
PY - 1999
Y1 - 1999
N2 - FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was located at the centromere of chromosome 19. This hybridization pattern was confirmed in the newborn infant and in his phenotypically normal father. The use of alpha-satellite DNA probes on interphase cells could result in false-positive errors due to rare variants such as the X-chromosome alpha-satellite found on chromosome 19 in our patient.
AB - FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was located at the centromere of chromosome 19. This hybridization pattern was confirmed in the newborn infant and in his phenotypically normal father. The use of alpha-satellite DNA probes on interphase cells could result in false-positive errors due to rare variants such as the X-chromosome alpha-satellite found on chromosome 19 in our patient.
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U2 - 10.1002/(SICI)1097-0223(199909)19:9<832::AID-PD653>3.0.CO;2-I
DO - 10.1002/(SICI)1097-0223(199909)19:9<832::AID-PD653>3.0.CO;2-I
M3 - Article
C2 - 10521840
AN - SCOPUS:0032881737
SN - 0197-3851
VL - 19
SP - 832
EP - 836
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 9
ER -