title: Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.
abstract: We report the prenatal diagnosis of a fetus with sacrococcygeal teratoma and facial dysmorphism attributed to a constitutional terminal deletion of chromosome 7q and partial trisomy of chromosome 2p likely resulting from a de novo balanced translocation. The cytogenetic abnormality was diagnosed prenatally after sonographic detection of teratoma and confirmed on peripheral blood cells at birth. The newborn died of post-operative complications at seven days of age. FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome. Despite the absence of other features of the triad, the teratoma observed in the fetus we describe might represent a partial form of Currarino syndrome.
authors.affiliation: Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France. lecaignec@hotmail.com
authors.forename: C
authors.initials: C
authors.lastname: Le Caignec
authors.forename: N
authors.initials: N
authors.lastname: Winer
authors.forename: M
authors.initials: M
authors.lastname: Boceno
authors.forename: C
authors.initials: C
authors.lastname: Delnatte
authors.forename: G
authors.initials: G
authors.lastname: Podevin
authors.forename: J M
authors.initials: JM
authors.lastname: Liet
authors.forename: M P
authors.initials: MP
authors.lastname: Quere
authors.forename: M
authors.initials: M
authors.lastname: Joubert
authors.forename: J M
authors.initials: JM
authors.lastname: Rival
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000196:embryology / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000196:embryology; D002897:Chromosomes, Human, Pair 7; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012445:Sacrococcygeal Region; D013724:Teratoma / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics