A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.
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.
Qin
N
N
Genzyme Genetics, Orange, CA 92868, USA. naigeng.qin@genzyme.com
Bartley
J
J
Wang
J-C
JC
Warburton
P E
PE
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
D005819:Genetic Markers