title: 45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.
abstract: 45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.
authors.affiliation: Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27103.
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
authors.forename: M
authors.initials: M
authors.lastname: Wheeler
authors.forename: D J
authors.initials: DJ
authors.lastname: Bartlett
authors.forename: I
authors.initials: I
authors.lastname: Subrt
authors.forename: N
authors.initials: N
authors.lastname: Rao
authors.forename: R L
authors.initials: RL
authors.lastname: Kroovand
authors.forename: B K
authors.initials: BK
authors.lastname: Burton
authors.forename: S
authors.initials: S
authors.lastname: Kahler
authors.forename: H K
authors.initials: HK
authors.lastname: Park
authors.forename: P
authors.initials: P
authors.lastname: Cosper
mesh_terms: D000649:Amniocentesis; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D014424:Turner Syndrome / Q000175:diagnosis*; D014997:XYY Karyotype / Q000175:diagnosis*