title: Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21.
abstract: 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.
authors.affiliation: Greenwood Genetic Center, South Carolina 29646, USA.
authors.forename: M C
authors.initials: MC
authors.lastname: Phelan
authors.forename: R A
authors.initials: RA
authors.lastname: Saul
authors.forename: T A
authors.initials: TA
authors.lastname: Gailey
authors.forename: S A
authors.initials: SA
authors.lastname: Skinner
mesh_terms: 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