Diagnosis of the fragile X syndrome (Martin-Bell syndrome). Clinical findings in 27 males with the fragile site at Xq28.

@article{Nielsen1983DiagnosisOT,
  title={Diagnosis of the fragile X syndrome (Martin-Bell syndrome). Clinical findings in 27 males with the fragile site at Xq28.},
  author={Karen Br\ondum Nielsen},
  journal={Journal of mental deficiency research},
  year={1983},
  volume={27 (Pt 3)},
  pages={
          211-26
        }
}
The results of a clinical investigation of 27 males with the fragile X are reported; the age range was from 1 to 77 years. The medical history in pre-, peri- and early post-natal life was unremarkable. Birth weights tended to be above average. In infancy hypotonia and a large head were often found, together with retarded development. Macroorchidism was almost uniformly found after puberty, but apparently not often before. The facial features in the grown-up males were characteristic, confirming… CONTINUE READING
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