Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.
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.
Engelen
J J M
JJ
Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl
Schrander-Stumpel
C T R M
CT
Theunissen
P M V M
PM
Vaes-Peeters
G
G
Albrechts
J C M
JC
Hamers
A J H
AJ
D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8; D002658:Developmental Disabilities / Q000235:genetics; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male
D005819:Genetic Markers