TY - JOUR
T1 - A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH
AU - Bhola, Shama L.
AU - Nieuwint, Aggie W. M.
AU - Stuurman, Kyra E.
PY - 2018
Y1 - 2018
N2 - In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such as microarray or FISH, is recommended when an unbalanced translocation is suspected.
AB - In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such as microarray or FISH, is recommended when an unbalanced translocation is suspected.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85049274212&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29988599
U2 - https://doi.org/10.1002/ccr3.1563
DO - https://doi.org/10.1002/ccr3.1563
M3 - Article
C2 - 29988599
SN - 2050-0904
VL - 6
SP - 1313
EP - 1316
JO - Clinical Case Reports
JF - Clinical Case Reports
IS - 7
ER -