Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21.
Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p- and trisomy 21.
Phelan
M C
MC
Greenwood Genetic Center, South Carolina 29646, USA.
Saul
R A
RA
Gailey
T A
TA
Skinner
S A
SA
D000328:Adult; D002894:Chromosomes, Human, Pair 4; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005313:Fetal Death; D017353:Gene Deletion; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome