Origins of accessory small ring marker chromosomes derived from chromosome 1
D F Callena, H Eyrea, Y-Y Fang* a, X-Y Guanb, A Velebac, N J Martind, J McGille, E A Haanf
a Department of
Cytogenetics and Molecular Genetics, Women's and Children's Hospital,
North Adelaide, 5006 SA, Australia, b Cancer Genetics Branch,
National Human Genome Research Institute, NIH, Bethesda, MD, USA, c Cytogenetics Unit, Mater Adult
Hospital, Queensland, Australia, d Cytogenetics
Unit, Royal Brisbane Hospital, Herston, Queensland, Australia, e Clinical Genetics Service, Royal
Children's Hospital, Herston Road, Herston, Queensland, Australia, f South Australian Clinical
Genetics Service, Women's and Children's Hospital, North Adelaide,
SA, Australia
Correspondence to: Assoc Professor Callen
Revised version received 21 June 1999;
Accepted for publication 5 July 1999
Three patients with accessory small ring chromosomes derived
from chromosome 1 are presented together with additional clinical details and cytogenetic analyses of a previously reported patient. Cytogenetic analysis was undertaken by FISH using a reverse painting probe generated from one of the patients by microdissection of the r(1)
chromosome and with a BAC923C6 which maps to 1p12. Results indicated
that patients with r(1) chromosomes consisting of 1q12 heterochromatin
and short arm pericentric euchromatin which extends to at least the
BAC923C6 were associated with a normal or mild phenotype. Patients with
abnormal phenotypes possessed two types of rings. One patient had
evidence for contiguous pericentric short arm euchromatin which
extended from the centromere to beyond the BAC923C6. Two patients
showed molecular cytogenetic results which were compatible with
non-contiguous chromosome 1 euchromatin. The diversity of origin of
r(1)s will hamper attempts to define phenotype/genotype relationships.
Keywords: ring chromosome 1; microdissection; chromosome painting
* Present address: Department of Neurology, University of Maryland, Baltimore, Maryland, USA
© 1999 by J Med Genet
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