Short report
Simultaneous occurrence of two supernumerary autosomal ring
chromosomes r(1) and r(16) in twins
Alan L Shanskea, Patricia Dowlingc, Rina Schmidtc, Beverly J Whitec, Barbara Russellb, Anna Bogdanowa, Robert W Mariona
a Center for
Congenital Disorders, Department of Pediatrics, Montefiore Medical
Center/Albert Einstein College of Medicine, NW556, 111 East 210th
Street, Bronx, New York 10467, USA, b Division of
Neonatology, Department of Pediatrics, Montefiore Medical Center/Albert
Einstein College of Medicine, Bronx, New York, USA, c Quest Diagnostics, Teterboro, New
Jersey, USA
Correspondence to: Dr Shanske.
Received 3 July 1998;
Revised version accepted for publication 2 March 1999
Ring chromosomes are estimated to occur in 3/10 000
newborns and the simultaneous occurrence of two autosomal rings must be a very rare event. Recently, the characterisation of these markers using fluorescence in situ hybridisation (FISH) has greatly enhanced cytogenetic-phenotypic correlations in patients with these marker chromosomes. This kind of analysis enabled us to clarify a unique karyotype containing a r(1) and a r(16) in identical twins born after a
26 week gestation with minimal somatic abnormalities. The origin of the
rings was identified using 
satellite and whole chromosome painting
probes. FISH analysis showed the same abnormal female karyotype in
both twins, 48,XX,+r(1)(p13q21),+r(16)(p11q11).ish r(1)
(D1Z5+,wcp1+), r(16)(D16Z2+,wcp16+) in about two thirds of the cells.
Each also had minor clones with a normal female karyotype or with one
or the other supernumerary ring. Half of the r(1) contained CBG band
negative material and the r(16) appeared to be totally CBG band
positive. These twins represent the second report of the simultaneous
occurrence of multiple autosomal rings. Their description may help to
delineate a new chromosome disorder and shows the usefulness of
FISH analysis.
Keywords: ring chromosome 1; ring chromosome 16; marker chromosomes; whole chromosome painting probes
© 1999 by J Med Genet
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