title: Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus.
abstract: We report an 18-week-old fetus with at 47, XY, -12, +12q, +psu idic(12p) karyotype, mild dysmorphic features and absence of the brachiocephalic truncus.
authors.affiliation: Unitat de Genètica, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Plaja
authors.forename: C
authors.initials: C
authors.lastname: Mediano
authors.forename: I
authors.initials: I
authors.lastname: Farran
authors.forename: T
authors.initials: T
authors.lastname: Vendrell
authors.forename: N
authors.initials: N
authors.lastname: Toran
authors.forename: T
authors.initials: T
authors.lastname: Gili
authors.forename: M A
authors.initials: MA
authors.lastname: Sanchez
authors.forename: E
authors.initials: E
authors.lastname: Sarret
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D016122:Brachiocephalic Trunk / Q000196:embryology*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D005145:Face / Q000196:embryology / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005333:Fetus / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D014314:Trisomy