45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.
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.
Pettenati
M J
MJ
Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27103.
Wheeler
M
M
Bartlett
D J
DJ
Subrt
I
I
Rao
N
N
Kroovand
R L
RL
Burton
B K
BK
Kahler
S
S
Park
H K
HK
Cosper
P
P
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*