Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation

Autor:	J. P. Fryns, F. de Bisschop, M. Buttiens, A. Kleczkowska, Emmery L, H. Van den Berghe
Rok vydání:	2008
Předmět:	Adult Chromosome Aberrations Male Genetics Partial Trisomy Skull education Isochromosome Infant Newborn Infant Trisomy Syndrome Biology medicine.disease Facial Bones Tetrasomy 18p medicine Partial Tetrasomy Humans Abnormalities Multiple Female Chromosomes Human Pair 18 Genetics (clinical)
Zdroj:	Clinical Genetics. 30:503-508
ISSN:	1399-0004 0009-9163
Popis:	In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f199b9be970c916a3fed87ca503ad40 https://doi.org/10.1111/j.1399-0004.1986.tb01918.x Zobrazit plný text záznamu Plný text