title: Heteromorphism 18ph+ : with or without reproductive consequences?
abstract: Heteromorphism or chromosomal variants are usually attributed to structural variations in constitutive heterochromatin. In the case of chromosome 18, 25 cases of 18ph+ have been reported to date. Using the Primed In Situ Labelling technique (PRINS) to study 2 new cases of 18ph+, we have been able to confirm their molecular nature and assuming a mechanism of formation. Although such chromosomal variants are usually thought to have no adverse clinical consequence, a review of the literature shows that many cases were diagnosed because of recurrent abortion, malformed or mentally retarded children suggesting the possible relationship between 18ph+ and such clinical outcomes.
authors.affiliation: Service d'Histologie-Embryologie-Cytogénétique et Biologie Cellulaire, Hôpital Bichat-Cl. Bernard, 46, Rue Henri Huchard, 75018, Paris, France. anne-claude.tabet@worldonline.fr
authors.forename: A C
authors.initials: AC
authors.lastname: Tabet
authors.forename: J M
authors.initials: JM
authors.lastname: Dupont
authors.forename: A
authors.initials: A
authors.lastname: Lebbar
authors.forename: M H
authors.initials: MH
authors.lastname: Couturier-Turpin
authors.forename: G
authors.initials: G
authors.lastname: Feldmann
authors.forename: D
authors.initials: D
authors.lastname: Rabineau
mesh_terms: D000653:Amniotic Fluid / Q000378:metabolism; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis