title: Pure familial 6q21q22.1 duplication in two generations.
abstract: Familial transmissions of unbalanced chromosomal abnormalities are rare. We report here the first case of a maternally inherited pure partial duplication of the long arm of chromosome 6 [46,XX,dup(6)(q21q22.1)mat]. The proband was referred for karyotyping as she presented intrauterine growth retardation (IUGR), moderate mental retardation and facial dysmorphism. Molecular cytogenetics analysis with various BACs showed a duplication of 5-10 Mb between 6q21 and 6q22.1. The proband's mother was found to have the same chromosome abnormality and a similar phenotype, but less severe dysmorphism. This variability in clinical findings between generations may have several causes, including attenuation with aging, imprinting or mosaicism. Only three other cases of pure partial 6q duplication similar to that of our case have been reported. The available information for all four cases was used to refine the karyotype-phenotype correlations for duplications of the 6q21q22 segment.
authors.affiliation: Service de Cytogénétique, Hôpital Cochin, APHP, 123 Bd du Port Royal, 75014 Paris, France.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Pazooki
authors.forename: Aziza
authors.initials: A
authors.lastname: Lebbar
authors.forename: Anne
authors.initials: A
authors.lastname: Roubergues
authors.forename: Francoise
authors.initials: F
authors.lastname: Baverel
authors.forename: Dominique
authors.initials: D
authors.lastname: Letessier
authors.forename: Jean Michel
authors.initials: JM
authors.lastname: Dupont
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014202:Tremor / Q000235:genetics