title: A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.
abstract: Parental chromosome studies were referred to us after initial finding of a balanced translocation involving chromosomes 4 and 15 in their phenotypically abnormal male child (cytogenetic analysis was done at another laboratory). In addition to the same 4;15 translocation, the father also had an interstitial deletion of the long arm of one chromosome 6 and a marker chromosome. In this article, we report a neocentromere on this marker, which was determined to be composed of chromosome 6 material by FISH. The child's karyotype was re-interpreted to be unbalanced due to the presence of the abnormal chromosome 6, but without the marker. The clinical phenotype associated with the interstitial deletion of chromosome 6 is also reported.
authors.affiliation: Genzyme Genetics, Orange, CA 92868, USA. naigeng.qin@genzyme.com
authors.forename: N
authors.initials: N
authors.lastname: Qin
authors.forename: J
authors.initials: J
authors.lastname: Bartley
authors.forename: J-C
authors.initials: JC
authors.lastname: Wang
authors.forename: P E
authors.initials: PE
authors.lastname: Warburton
mesh_terms: D002503:Centromere / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male
chemical_list: D005819:Genetic Markers