Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.
We report a case of 45,XY,-5,-21,+der (5) t(5;21) (p13 or p14;q11.2 or q21) that was prenatally misdiagnosed as complete monosomy 21 and terminated at 24 weeks of gestation. Subsequent fluorescence in situ hybridization studies with a chromosome 21 painting probe documented the cryptic unbalanced translocation.
Gill
P
P
Department of Obstetrics and Gynecology, University of Washington Medical Center, Seattle.
Uhrich
S
S
Disteche
C
C
Cheng
E
E
D000028:Abortion, Induced; D000328:Adult; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D003951:Diagnostic Errors; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009006:Monosomy / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic