Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.
Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a normal phenotype or mild and inconsistent abnormalities. The present cases, as well as the review of literature, indicate that duplication 18p is associated with few or inapparent phenotypic abnormalities.
Wolff
D J
DJ
Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201.
Raffel
L J
LJ
Ferré
M M
MM
Schwartz
S
S
D000328:Adult; D000649:Amniocentesis; D002887:Chromosomes, Human, Pair 18; D004247:DNA / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D005810:Multigene Family / Q000235:genetics*; D010641:Phenotype
D004247:DNA