Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.
AUTOR(ES)
Simpson, J
RESUMO
A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013527Documentos Relacionados
- Partial trisomy 12q: report of a case and review.
- Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.
- The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.
- Eosinophilic fasciitis. Case report and review of the literature.
- Orbital paraganglioma: case report and review of the literature.
