Fetus with unbalanced translocation involving chromosomes 2 and 11.
We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene is discussed.
Norman
A M
AM
Regional Genetic Service, Manchester, UK.
Read
A P
AP
Clark
A
A
Haslam
J
J
Donnai
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D014178:Translocation, Genetic; D014849:Waardenburg Syndrome / Q000235:genetics