title: Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.
abstract: Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.
authors.affiliation: Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756.
authors.forename: J P
authors.initials: JP
authors.lastname: Park
authors.forename: M K
authors.initials: MK
authors.lastname: McDermet
authors.forename: A M
authors.initials: AM
authors.lastname: Doody
authors.forename: J M
authors.initials: JM
authors.lastname: Marin-Padilla
authors.forename: J B
authors.initials: JB
authors.lastname: Moeschler
authors.forename: D H
authors.initials: DH
authors.lastname: Wurster-Hill
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D009436:Neural Tube Defects / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal