title: Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.
abstract: This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q).
authors.affiliation: Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, N.H.
authors.forename: D H
authors.initials: DH
authors.lastname: Wurster-Hill
authors.forename: J M
authors.initials: JM
authors.lastname: Marin-Padilla
authors.forename: J B
authors.initials: JB
authors.lastname: Moeschler
authors.forename: J P
authors.initials: JP
authors.lastname: Park
authors.forename: M
authors.initials: M
authors.lastname: McDermet
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy