Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

Autor:	L, Celle, L, Lee, N, Rintoul, R C, Savani, W, Long, M T, Mennuti, I D, Krantz
Rok vydání:	2000
Předmět:	Chromosome Aberrations Male Phenotype Gene Duplication Karyotyping Chromosome Mapping Humans Infant Twin Studies as Topic Twins Monozygotic Chromosomes Human Pair 4
Zdroj:	American journal of medical genetics. 94(2)
ISSN:	0148-7299
Popis:	We describe monozygotic twins with partially discordant phenotypes who were found to have a duplication of chromosome region 4q28.3-qter. The duplicated region of chromosome 4 resulted from an unbalanced segregation of a balanced maternal (4;22)(q28.3;p13) translocation. Duplication of the long arm of chromosome 4 has been described in60 patients; however, it usually results from the unbalanced segregation of a parental balanced translocation and has an associated monosomy. Twenty cases of dup 4q without an associated monosomy have been reported, and this is the only case of dup 4q28. 3-qter. All cases of dup 4q are reviewed, and phenotypic aspects are analyzed. Issues of monozygotic twinning and other birth defects also are addressed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::34c5b8a5cda4c08d8c467ccab4a9d121 https://pubmed.ncbi.nlm.nih.gov/10982969 Zobrazit plný text záznamu Plný text