The 9p-syndrome.
- 1 February 1979
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 16 (1) , 75-79
- https://doi.org/10.1136/jmg.16.1.75
Abstract
A 13 yr old boy with 9p- (p22 .fwdarw. pter) is reported. He had many features in common with previous 9p- cases and several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to band 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT (galactose-1-phosphate uridyl transferase EC 2.7.7.12) enzyme suggests that its locus is not on the deleted segment.Keywords
This publication has 14 references indexed in Scilit:
- The deletion 9p syndrome. A 61‐year‐old man with deletion of short arm 9Clinical Genetics, 1977
- Stable dicentric autosome, tdic (8:22)(p23:p13), in a mentally retarded girl.Journal of Medical Genetics, 1977
- Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)Human Genetics, 1977
- A case of 9p- syndromeHuman Genetics, 1977
- Structure and inheritance of some heterozygous Robertsonian translocation in man.Journal of Medical Genetics, 1976
- An improved technique for selective silver staining of nucleolar organizer regions in human chromosomesHuman Genetics, 1976
- The 9p‐ deletion syndrome. Report of a patient with a 46, XX, 9p‐ constitution due to a paternal t(9p‐; 15q+) translocationClinical Genetics, 1975
- A 45, XX,5–,13–, dic+ karyotype in a case of cri-du-chat syndromeCytogenetic and Genome Research, 1972
- C-Group Chromosome Abnormality (? 10p-)American Journal of Diseases of Children, 1970
- Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytesClinica Chimica Acta; International Journal of Clinical Chemistry, 1966