REPORT OF A TRISOMY-8P INFANT WITH CARRIER FATHER

  • 1 January 1978
    • journal article
    • research article
    • Vol. 21  (4) , 219-222
Abstract
An infant with fatal congenital heart disease, cleft palate, brain malformations and trisomy 8p resulting from paternal balanced reciprocal translocation, rcp(8;15) (p11;p11) is described. Review of 6 previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in 5, short stature in all and a variety of brain, skeletal and cardiac defects. The features of the 7 trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. The features differ from those in the trisomy 8 mosaicism syndrome, in which mental retardation and malformations are generally less severe.

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