title: Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling.
abstract: Chromosomal centromeric variants can be found in the course of a prenatal diagnosis. When following the discovery of fetal abnormalities at ultrasound examination, such variants may lead to some difficulties in genetic counseling. Here we describe a new heteromorphism implicating chromosome 12, found in a fetus with a suspicion of microcephaly, and we discuss its prognostic value.
authors.affiliation: Service d'Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon et Laboratoire de Cytologie Histologie, Centre Universitaire des Saints-Pères, Paris, France.
authors.forename: Sandra
authors.initials: S
authors.lastname: Chantot-Bastaraud
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Siffroi
authors.forename: Nadia
authors.initials: N
authors.lastname: Berkane
authors.forename: Nazbanou
authors.initials: N
authors.lastname: Heim
authors.forename: François
authors.initials: F
authors.lastname: Herve
authors.forename: Serge
authors.initials: S
authors.lastname: Uzan
authors.forename: Eric
authors.initials: E
authors.lastname: Vendrely
mesh_terms: D000328:Adult; D002503:Centromere / Q000235:genetics*; D002869:Chromosome Aberrations / Q000196:embryology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling / Q000379:methods* / Q000523:psychology; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*