Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31).
We report on a second trimester female fetus with 4q duplication (4q27-->4qter) and 18q deficiency (18q21.31-->qter) as the unbalanced product of a t(4;18)(q27;q21.31)mat. On fetopathological examination this fetus presented clinical features suggestive of the diagnosis of trisomy 18. A review is given of other reported patients with 4q duplication/18q deficiency.
Van Buggenhout
G
G
Center for Human Genetics, University Hospital, Leuven, Belgium.
Moerman
P H
PH
Fryns
J P
JP
D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D005810:Multigene Family; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*