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

Publisher Website
Google Scholar
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.