Case Reports
doi: 10.1007/BF00455265.
18q- syndrome in mother and daughter
- PMID: 421697
- DOI: 10.1007/BF00455265
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Case Reports
18q- syndrome in mother and daughter
Eur J Pediatr.
.
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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