A 46, XY, del(18)(pter→pl 100:) Cebocephalic child from a 46, XX, t(12;18)(18pter→18pl 100 :: 12qter→12pter) normal parent

Abstract

A normal female with an 18p—chromosome but without any feature of the 18p—syndrome produced a cebocephalic child whose karyotype included an 18p—chromosome. Evidence is presented that the normal female is a nonreciprocal translocation heterozygote resulting from the short arm of one chromosome 18 becoming attached to the long arm of a chromosome 12. 
DOI: 10.1007/BF00284446

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