A CGH study of 27 patients with CHARGE association

Autor:	D, Sanlaville, S P, Romana, J M, Lapierre, J, Amiel, D, Genevieve, C, Ozilou, M, Le Lorch, S, Brisset, P, Gosset, C, Baumann, C, Turleau, S, Lyonnet, M, Vekemans
Rok vydání:	2002
Předmět:	Chromosome Aberrations Heart Defects Congenital Male Homozygote Nucleic Acid Hybridization Ear Syndrome Choanal Atresia Chromosomes Cohort Studies Coloboma Karyotyping Humans Abnormalities Multiple Female Genitalia Growth Disorders In Situ Hybridization Fluorescence
Zdroj:	Clinical genetics. 61(2)
ISSN:	0009-9163
Popis:	CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness. The cause of this association remains unknown. Various genetic mechanisms have been proposed, including a contiguous gene syndrome but, so far, no recurrent locus has been identified. To address this question, we decided to perform a comparative genomic hybridization (CGH) study on a cohort of 27 patients with CHARGE association and a normal standard karyotype. We found two chromosomal anomalies: a der(9)t(9;13) derived from a paternal translocation and a der(6)t(4;6) of unknown origin. This suggests that chromosome imbalances may well mimic CHARGE association. Therefore patients with CHARGE association must be carefully tested with classical and molecular cytogenetic techniques to detect a potential chromosome imbalance. It is expected that more stringent diagnostic criteria of CHARGE association could define a more homogeneous group of patients where a single genetic cause might be identified.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::d491f501e2839603d6b54ee1b1c95eee https://pubmed.ncbi.nlm.nih.gov/11940088 Zobrazit plný text záznamu Plný text