title: Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
abstract: A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyotype was 46,XY,der(3)del(3)(p26) dup(3)(p26p21.3). The association of holoprosencephaly with duplication 3p is well known, but to the best of our knowledge this is the first reported association of meningomyelocele with 3p duplication. These findings suggest that a gene or genes with a crucial role in central nervous system development are located on the short arm of chromosome 3.
authors.affiliation: Prenatal Diagnosis Program, University Health Network, The University of Toronto, Toronto, Ontario, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Kennedy
authors.forename: M M
authors.initials: MM
authors.lastname: Silver
authors.forename: E J
authors.initials: EJ
authors.lastname: Winsor
authors.forename: A
authors.initials: A
authors.lastname: Toi
authors.forename: J
authors.initials: J
authors.lastname: Provias
authors.forename: M
authors.initials: M
authors.lastname: Macha
authors.forename: K
authors.initials: K
authors.lastname: Precht
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002893:Chromosomes, Human, Pair 3; D005260:Female; D005333:Fetus; D005865:Gestational Age; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008591:Meningomyelocele / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal