Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation.
We describe a child with Wolf-Hirschhorn syndrome with the karyotype 45,XY,inv(9)(p11q13)pat,-4,-21,+der(4),t(4;21)(p15.3;q11.2)mat. This is the second case known to us of Wolf-Hirschhorn syndrome caused by 1:3 segregation of a parental rearrangement. This mode of segregation can be predicted in both cases by a pachytene-diagram model. It is uncertain whether or not the proximal 21q monosomy in this case has affected the phenotype.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D002905:Chromosomes, Human, 4-5; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D008844:Micrognathism / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic