| 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 - Halal_1992_Am.J.Med.Genet_43_576 |
| Author(s) : Halal F , Chitayat D , Parikh H , Rosenblatt B , Tranchemontagne J , Vekemans M , Potier M |
| Ref : American Journal of Medicine Genet , 43 :576 , 1992 |
|
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. |
| PubMedSearch : Halal_1992_Am.J.Med.Genet_43_576 |
| PubMedID: 1605251 |
| Gene_locus related to this paper: human-CTSA |
| Gene_locus | human-CTSA |
| Disease | Galactosialidosis |
Halal F, Chitayat D, Parikh H, Rosenblatt B, Tranchemontagne J, Vekemans M, 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
American Journal of Medicine Genet
43 :576
Halal F, Chitayat D, Parikh H, Rosenblatt B, Tranchemontagne J, Vekemans M, Potier M (1992)
American Journal of Medicine Genet
43 :576