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A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6

Qin N.a · Bartley J.a · Wang J.-C.b · Warburton P.E.c
aGenzyme Genetics, Orange; bGenzyme Genetics, Pasadena, CA cDepartment of Human Genetics, Mount Sinai School of Medicine, New York, NY (USA) Cytogenet Genome Res 119:154–157 (2007) (DOI:10.1159/000109633)

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.

 

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