A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6Qin 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)
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.
|Direct payment||This item at the regular price: USD 33.00|
|Payment from account||With a Karger Pay-per-View account (down payment USD 150)
you profit from a special rate for this and other single items.
This item at the discounted price: USD 23.00