TY - JOUR
T1 - Prenatal diagnosis of trisomy 4 mosaicism
AU - Zaslav, Ann Leslie
AU - Blumenthal, Donna
AU - Willner, Judith P.
AU - Pierno, Guy
AU - Jacob, Jesse
AU - Fox, Joyce E.
N1 - Funding Information:
This research was based on observations collected at the ESO 8.2-m VLT-UT1 Antu telescope (program 68.C-0214A). JY acknowledges support from FCT (SFRH/BSAB/1423/2014). This research made use of the NASA/IPAC Infrared Science Archive, which is operated by the Jet Propulsion Laboratory, California Institute of Technology, under contract with the National Aeronautics and Space Administration. This research also made use of the SIMBAD data base, operated at CDS, Strasbourg, France, as well as SAOIMAGE DS9, developed by the Smithsonian Astrophysical Observatory. This publication makes use of data products from the Wide-field Infrared Survey Explorer, which is a joint project of the University of California, Los Angeles, and the Jet Propulsion Laboratory/California Institute of Technology, funded by the National Aeronautics and Space Administration.
PY - 2000/12/11
Y1 - 2000/12/11
N2 - Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One ease resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at the time of amniocentesis was 47,XY,+4[3]/46,XY[33] and resulted in a normal liveborn male. FISH analysis using an alpha satellite chromosome 4 probe was performed to confirm the cytogenetic findings. Follow-up chromosome analysis of cord blood, peripheral blood, foreskin, and umbilical cord firoblasts showed a normal 46,XY male karyotype in all cells. FISH analysis of cord blood, umbilical cord fibroblasts, and amniotic fluid cells demonstrated two signals in 246 nuclei (i.e., 46,XY) and three signals in six nuclei (i.e., 47,XY,+4). Here we describe the present case of trisomy 4 mosaicism, the literature is reviewed, and the significance of this finding is discussed. (C) 2000 Wiley-Liss, Inc.
AB - Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One ease resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at the time of amniocentesis was 47,XY,+4[3]/46,XY[33] and resulted in a normal liveborn male. FISH analysis using an alpha satellite chromosome 4 probe was performed to confirm the cytogenetic findings. Follow-up chromosome analysis of cord blood, peripheral blood, foreskin, and umbilical cord firoblasts showed a normal 46,XY male karyotype in all cells. FISH analysis of cord blood, umbilical cord fibroblasts, and amniotic fluid cells demonstrated two signals in 246 nuclei (i.e., 46,XY) and three signals in six nuclei (i.e., 47,XY,+4). Here we describe the present case of trisomy 4 mosaicism, the literature is reviewed, and the significance of this finding is discussed. (C) 2000 Wiley-Liss, Inc.
KW - Mosaicism
KW - Prenatal diagnosis
KW - Trisomy 4
UR - http://www.scopus.com/inward/record.url?scp=0034639288&partnerID=8YFLogxK
U2 - 10.1002/1096-8628(20001211)95:4<381::AID-AJMG15>3.0.CO;2-9
DO - 10.1002/1096-8628(20001211)95:4<381::AID-AJMG15>3.0.CO;2-9
M3 - Article
C2 - 11186894
AN - SCOPUS:0034639288
SN - 0148-7299
VL - 95
SP - 381
EP - 384
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -