Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report.
In a mentally retarded female an interstitial deletion of a chromosome 9 and an additional ring chromosome was shown, which by positive hybridisation with a no 9 library was considered to be the excised segment. The functional centromere and C and DA/DAPI positive material as well on the ring chromosome are explained by a break within the centromere close to the constitutive heterochromatin and supports the hypothesis of "latent" centromere(s).
Pfeiffer
R A
RA
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
Trautmann
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U
Hirmer-Stoll
R
R
D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D012303:Ring Chromosomes