THE R(14) SYNDROME - 3 NEW OBSERVATIONS

  • 1 January 1984
    • journal article
    • research article
    • Vol. 27  (2) , 73-78
Abstract
Three observations of r(14) are reported. Constant features of r(14) syndrome are: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig H chain genes, is emphasized.