Partial trisomy 11q syndrome (11q23.1--11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation

Autor:	G E, Utine, R, Thoelen, H, Peeters, J, Vermeesch, J P, Fryns
Rok vydání:	2005
Předmět:	Chromosomes Human Pair 11 Developmental Disabilities Karyotyping Humans Infant Female Trisomy Polymerase Chain Reaction Growth Disorders In Situ Hybridization Fluorescence
Zdroj:	Genetic counseling (Geneva, Switzerland). 16(3)
ISSN:	1015-8146
Popis:	In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M-FISH), as a partial distal 11q trisomy (11q23.1--11qter). The clinical phenotype association with this distal 11q trisomy is briefly reviewed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::27ab0c2a716408757722e540a755eabd https://pubmed.ncbi.nlm.nih.gov/16259326 Zobrazit plný text záznamu