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Keywords:

  • ring chromosome 20;
  • growth retardation;
  • microcephaly;
  • epilepsy;
  • growth hormone deficiency;
  • mental retardation;
  • carboxypeptidase;
  • protective protein;
  • β-galactosidase;
  • α-neuraminidase;
  • galactosialidosis

Abstract

We report on a 14-year-old boy with ring chromosome 20. Clinical manifestations included postnatal growth retardation, epilepsy, microcephaly, behaviour disorder, minor facial anomalies, small sella turcica, possible partial growth hormone deficiency, and mental retardation. A decreased activity of enzyme carboxypeptidase-L/ protective protein (CP/PP) in cultured fibroblasts was demonstrated in our patient and a patient with a karyotype 46,XY,−14,+der(14)t(14;20)(14pter[RIGHTWARDS ARROW]14q32.3::20q13.1[RIGHTWARDS ARROW]20qter)mat. This suggests possible assignment of the CP/PP gene to the distal segment of 20q. © 1992 Wiley-Liss, Inc.