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.
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.
Halal
F
F
Department of Pediatrics, Hôpital Ste-Justine, Université de Montréal, Quebec, Canada.
Chitayat
D
D
Parikh
H
H
Rosenblatt
B
B
Tranchemontagne
J
J
Vekemans
M
M
Potier
M
M
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
D002268:Carboxypeptidases; C055587:carboxypeptidase L