Mitotic disturbance associated with mosaic aneuploidies

Autor:	L. Winkler, W. Müller, J. H. H. Ehrich, M. R. Hadam, Sibylle D. Flatz, K. Miller
Rok vydání:	1990
Předmět:	Proband Genetics Male Autosome Mosaicism Mutant Centromere Aneuploidy Infant Mitosis Biology medicine.disease Human genetics Nondisjunction Genetic medicine Humans Genetics (clinical) Immunodeficiency
Zdroj:	Human genetics. 84(4)
ISSN:	0340-6717
Popis:	The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50. A high proportion of the metaphases showed PCD or had the appearance of C-anaphases. These findings probably represent a new mutant affecting mitosis and causing mosaic aneuploidies.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb450ed242efc7d732a40d5b1565dbc https://pubmed.ncbi.nlm.nih.gov/2307459 Zobrazit plný text záznamu Full text from SpringerLink