A CGH study of 27 patients with CHARGE association

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...

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Veröffentlicht in:Clinical genetics 2002-02, Vol.61 (2), p.135-138
Hauptverfasser: Sanlaville, D, Romana, SP, Lapierre, JM, Amiel, J, Genevieve, D, Ozilou, C, Le Lorch, M, Brisset, S, Gosset, P, Baumann, C, Turleau, C, Lyonnet, S, Vekemans, M
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Sprache:eng
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Zusammenfassung: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.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2002.610208.x