title: Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement.
abstract: The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings.
authors.affiliation: Department of Paediatric Cardiology, Hospital Pediátrico de Coimbra, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Pires
authors.forename: Lina
authors.initials: L
authors.lastname: Ramos
authors.forename: Margarida
authors.initials: M
authors.lastname: Venâncio
authors.forename: Ana Isabel
authors.initials: AI
authors.lastname: Rei
authors.forename: Sérgio
authors.initials: S
authors.lastname: Castedo
authors.forename: Jorge
authors.initials: J
authors.lastname: Saraiva
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000025:Abortion, Eugenic; D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018191:Lymphangioma, Cystic / Q000175:diagnosis / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D016216:Ultrasonography, Prenatal