title: Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male.
abstract: We report a four generations family with multiple exostoses segregating with a reciprocal translocation t(8;19)(q24.11;q13.13) in 8 members of three generations. FISH investigations detected a breakage of the dosage-sensitive EXT1 gene. Although three members of the family died perinatally from unknown causes and one carrier had four spontaneous abortions, the translocation was discovered only when the cytogenetic analysis was requested in an affected male because of oligozoospermia. In fact, it is well known that infertile males may be carriers of reciprocal or Robertsonian translocations with a higher frequency than the general population. This family stresses the importance of requesting the cytogenetic analysis in all cases in which a dominant disease segregates with repeated miscarriages and/or newborn deaths of unknown cause.
authors.affiliation: Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy.
authors.forename: Tiziano
authors.initials: T
authors.lastname: Pramparo
authors.forename: Giuliana
authors.initials: G
authors.lastname: Gregato
authors.forename: Manuela
authors.initials: M
authors.lastname: De Gregori
authors.forename: Alessandra
authors.initials: A
authors.lastname: Friso
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ardenghi
authors.forename: Mariano
authors.initials: M
authors.lastname: Rocchi
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
mesh_terms: D000328:Adult; D000368:Aged; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D007246:Infertility; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D014178:Translocation, Genetic; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1