Article

Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20

  1. Dr. Fahed Halal1,3,4,*,
  2. David Chitayat1,
  3. Hasu Parikh1,
  4. Bernard Rosenblatt2,
  5. Julie Tranchemontagne5,
  6. Michel Vekemans1,
  7. Michel Potier5

Article first published online: 7 JUN 2005

DOI: 10.1002/ajmg.1320430314

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 43, Issue 3, pages 576–579, 1 June 1992

Additional Information

How to Cite

Halal, F., Chitayat, D., Parikh, H., Rosenblatt, B., Tranchemontagne, J., Vekemans, M. and Potier, M. (1992), Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20. Am. J. Med. Genet., 43: 576–579. doi: 10.1002/ajmg.1320430314

Author Information

  1. 1

    Department of Pediatrics, Division of Medical Genetics, Center for Human Genetics, McGill University, Canada

  2. 2

    Division of Neurology, Montreal Children's Hospital, McGill University, Canada

  3. 3

    Department of Pediatrics, Hǒpital Notre-Dame, Canada

  4. 4

    Department of Pediatrics, Hǒpital Ste-Justine, Université de Montréal, Montreal, Quebec, Canada

  5. 5

    Division of Medical Genetics, Hǒpital Ste-Justine, Université de Montréal, Montreal, Quebec, Canada

*Division of Medical Genetics, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3

Publication History

  1. Issue published online: 7 JUN 2005
  2. Article first published online: 7 JUN 2005
  3. Manuscript Revised: 26 AUG 1991
  4. Manuscript Received: 15 APR 1991

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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→14q32.3::20q13.1→20qter)mat. This suggests possible assignment of the CP/PP gene to the distal segment of 20q. © 1992 Wiley-Liss, Inc.

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