title: 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.
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)m at. This suggests possible assignment of the CP/PP gene to the distal segment of 20q.
authors.affiliation: Department of Pediatrics, Hôpital Ste-Justine, Université de Montréal, Quebec, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Halal
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: H
authors.initials: H
authors.lastname: Parikh
authors.forename: B
authors.initials: B
authors.lastname: Rosenblatt
authors.forename: J
authors.initials: J
authors.lastname: Tranchemontagne
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: M
authors.initials: M
authors.lastname: Potier
mesh_terms: D000293:Adolescent; D002268:Carboxypeptidases / Q000235:genetics*; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D005796:Genes; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012303:Ring Chromosomes
chemical_list: D002268:Carboxypeptidases; C055587:carboxypeptidase L