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  • Title: Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation.
    Author: Bauer K, Howard-Peebles PN, Keele D, Friedman JM.
    Journal: Am J Med Genet; 1985 Jun; 21(2):351-6. PubMed ID: 4014316.
    Abstract:
    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.
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