Prenatal diagnosis and subsequent management of a fetus with a 46XY r(4)(p15-q35) karyotype.
Fetal ultrasound examination at 29 weeks' gestation revealed a severely symmetrically growth-retarded fetus with microcephaly, hypertelorism, and hypoplastic genitalia with a two-vessel umbilical cord. G-banding analysis on amniotic cell cultures revealed a 46, XY,r(4)(p15-q35) karyotype in each of the colonies analyzed. This prenatal diagnosis, to our knowledge the first reported, assisted clinical management of this pregnancy.
Sherer
D M
DM
Department of Obstetrics and Gynecology, Strong Memorial Hospital, University of Rochester School of Medicine and Dentistry, New York 14642.
Shah
Y G
YG
Wang
N
N
Metlay
L A
LA
Woods
J R
JR
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D012303:Ring Chromosomes; D016216:Ultrasonography, Prenatal