Molecular cytogenetic identification of four X chromosome duplications

Autor:	A, Zhang, D D, Weaver, C G, Palmer
Rok vydání:	1997
Předmět:	Adult Male X Chromosome DNA Mutational Analysis Chromosome Mapping Sequence Analysis DNA Chromosome Banding Pedigree Child Preschool Karyotyping Humans Female In Situ Hybridization Fluorescence Sex Chromosome Aberrations
Zdroj:	American journal of medical genetics. 68(1)
ISSN:	0148-7299
Popis:	Four cases with previously unidentified X-chromosome abnormalities were studied by standard cytogenetic techniques and FISH in order to demonstrate the origin of the extra segment on the abnormal X chromosomes. All cases were identified as X-chromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG- and RBG-banding proved useful in defining the breakpoints and the extent of the duplications. Although the duplicated X chromosome in female cases was selectively inactivated, as demonstrated by its late-replicating pattern, abnormal clinical findings were manifested in 3 female patients.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::ccac5ea5829b18ecbe068a79739d81ae https://pubmed.ncbi.nlm.nih.gov/8986272 Zobrazit plný text záznamu Plný text