Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child

Autor:	I, Lorda-Sanchez, I, Lopez-Pajares, M C, Roche, R, Sanz, M, Rodriguez de Alba, M C, Gonzalez-Gonzalez, A, Ibañez, C, Ramos, C, Ayuso
Rok vydání:	2001
Předmět:	Intellectual Disability Karyotyping Chromosome Inversion Humans Infant Chromosomes Human Pair 6 Female Chromosome Deletion Telomere DNA Probes In Situ Hybridization Fluorescence
Zdroj:	American journal of medical genetics. 95(4)
ISSN:	0148-7299
Popis:	We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. This illustrates the use of specific subtelomeric fluorescent in situ hybridization probes to detect cryptic deletions as an important cause of mental retardation in seemingly balanced chromosome rearrangements.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::542a2d974037b6b4b859c479e79ec382 https://pubmed.ncbi.nlm.nih.gov/11186887 Zobrazit plný text záznamu Plný text