title: Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant.
abstract: Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without phenotypic effect. Polymorphisms of the size of heterochromatic centromeric regions of chromosomes 1, 9 and 16 have been well documented in humans but only four previous reports described centromeric polymorphism of chromosome 6. We present a prenatal diagnosis of a rare de novo centromeric chromosome 6 variant. Cytogenetic and molecular techniques were used to characterize this variant and confirm the de novo nature of this event. This case illustrates the importance of reporting unusual variant chromosomes for genetic counseling and for determination of the frequency of variant chromosomes in the general population.
authors: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France. cgoumy@chu-clermontferrand.fr
authors: C
authors: C
authors: Goumy
authors: S
authors: S
authors: Kemeny
authors: E
authors: E
authors: Eymard-Pierre
authors: C
authors: C
authors: Richard
authors: L
authors: L
authors: Gouas
authors: P
authors: P
authors: Combes
authors: M
authors: M
authors: Gay-Bellile
authors: D
authors: D
authors: Gallot
authors: A
authors: A
authors: Tchirkov
authors: P
authors: P
authors: Vago
mesh_terms: D002503:Centromere / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D059785:Karyotype; D006831:Polyhydramnios / Q000235:genetics*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055815:Young Adult