title: Two unusual chromosome aberrations ascertained by sonographic anomalies.
abstract: We describe two cases of sonographic abnormalities associated with unusual chromosomal aberrations. Case 1 presented with a cystic hygroma at 12 weeks' gestation. Cytogenetic analysis revealed an unbalanced complex chromosome rearrangement implicating chromosomes 6, 13 and 21 (karyotype: 47,XX,t(6;21;14)(q14;q21;q21)mat,+21) and corresponding to a complete trisomy 21. This anomaly resulted from malsegregation of a maternal balanced three-way translocation. For case 2, an alobar holoprosencephaly was identified by ultrasonography at 23 weeks' gestation. Chromosomal analysis showed a recombinant rec (13), dup q chromosome, secondary to unequal crossing-over of a paternal pericentric inversion of chromosome 13, giving rise to partial trisomy 13q (karyotype: 46,XX,rec(13)dup(13q)inv(13)(p11q21)pat). These two cases illustrate the role of ultrasound in leading to detection not only of foetal chromosomal aberrations but also of rare balanced chromosomal rearrangements presented by one of the two parents.
authors.affiliation: Department of Histology and Cytogenetics, Limoges University Hospital, Faculty of Medicine, Limoges, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Bourthoumieu
authors.forename: Francoise
authors.initials: F
authors.lastname: Esclaire
authors.forename: Faraj
authors.initials: F
authors.lastname: Terro
authors.forename: Maryse
authors.initials: M
authors.lastname: Fiorenza
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Eyraud
authors.forename: Michel
authors.initials: M
authors.lastname: Servaud
authors.forename: Muriel
authors.initials: M
authors.lastname: Cantaloube
authors.forename: Veronique
authors.initials: V
authors.lastname: Fermeaux
authors.forename: Catherine
authors.initials: C
authors.lastname: Yardin
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D016216:Ultrasonography, Prenatal