title: A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000757:Anencephaly / Q000235:genetics; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic