Document Detail


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.
MedLine Citation:
PMID:  1605251     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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)m at. This suggests possible assignment of the CP/PP gene to the distal segment of 20q.
Authors:
F Halal; D Chitayat; H Parikh; B Rosenblatt; J Tranchemontagne; M Vekemans; M Potier
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  43     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1992 Jun 
Date Detail:
Created Date:  1992-07-16     Completed Date:  1992-07-16     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  576-9     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Hôpital Ste-Justine, Université de Montréal, Quebec, Canada.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Carboxypeptidases / genetics*
Cells, Cultured
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 20*
Genes
Growth Disorders / genetics*
Humans
Male
Mental Retardation / genetics
Ring Chromosomes*
Chemical
Reg. No./Substance:
EC 3.4.-/Carboxypeptidases; EC 3.4.16.5/carboxypeptidase L

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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