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Characterization of a chromosome 8‐derived minute marker chromosome using microdissection and FISH in a boy with growth retardation
Author(s) -
Engelen J.J.M.,
SchranderStumpel C.T.R.M.,
Theunissen P.M.V.M.,
VaesPeeters G.,
Albrechts J.C.M.,
Hamers A.J.H.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10267
Subject(s) - microdissection , fish <actinopterygii> , chromosome , genetics , biology , chromosome analysis , computational biology , karyotype , gene , fishery
Abstract In a 9‐year‐old boy referred because of growth retardation, chromosome analysis showed the presence of a minute marker chromosome in 75% of the metaphases examined. The application of microdissection in combination with fluorescence in situ hybridization demonstrated that the marker was derived from the centromere region of chromosome 8, the karyotype being: mos 47,XY,+mar.ish der(8)(D8Z1+)[75]/46,XY[25]. The clinical and cytogenetical findings are compared with cases previously reported in the literature. © 2003 Wiley‐Liss, Inc.