Abstract
The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21)), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for the 18q- phenotype must be located in or near band 18q21, in which the break is assumed to have occurred.
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Fryns, J.P., Logghe, N., van Eygen, M. et al. 18q- syndrome in mother and daughter. Eur J Pediatr 130, 189–192 (1979). https://doi.org/10.1007/BF00455265
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DOI: https://doi.org/10.1007/BF00455265