G Stetten, C M Tuck-Muller, K J Blakemore, C Wong, H H Kazazian, S E Antonarakis
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Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.
We have used molecular and cytogenetic methods to study the derivation of a ring chromosome 13 in the fetus of a woman mosaic for a translocation chromosome 13. DNA analysis showed that the translocation chromosome was a Robertsonian translocation, not an isochromosome. We suggest that the ring is derived from the translocation chromosome by breaks in both long arms and subsequent reunion, r(13) (q12q14).
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