title: An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.
abstract: Heterochromatin confined to pericentromeric and secondary constriction regions plays a major role in morphological variation of chromosome 9, because of its size and affinity for pericentric inversion. We report on a 6-year-old boy with growth and language delay, minor facial anomalies and unusual chromosome 9 variant with an extra-band in the centromeric region on the conventional karyotype. Subsequent analysis by FISH and CGH identified this variant as a dicentric chromosome 9 with a duplication of the 9p12-q21 region. An identical chromosome 9 variant was found in the mild language retarded brother and in the phenotypically normal father and grandfather. The presumed mechanism accounting for the phenotypic discordance observed in this family and the usefulness of CGH in characterization of such variants are discussed. To our knowledge, this is the first investigation of an unusual chromosome 9 variant by CGH.
authors.affiliation: Cytogénétique Médicale, CHU et Faculté de Médecine, BP 38, 63001 Clermont-Ferrand Cedex.
authors.forename: C
authors.initials: C
authors.lastname: Goumy
authors.forename: M
authors.initials: M
authors.lastname: Mihaescu
authors.forename: A
authors.initials: A
authors.lastname: Tchirkov
authors.forename: M
authors.initials: M
authors.lastname: Giollant
authors.forename: M N
authors.initials: MN
authors.lastname: Bonnet-Dupeyron
authors.forename: J Y
authors.initials: JY
authors.lastname: Jaffray
authors.forename: A
authors.initials: A
authors.lastname: Geneix
authors.forename: B
authors.initials: B
authors.lastname: Perissel
authors.forename: C
authors.initials: C
authors.lastname: Francannet
authors.forename: O
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: P
authors.initials: P
authors.lastname: Vago
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities; D005260:Female; D014644:Genetic Variation; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007806:Language Disorders / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype