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A CGH study of 27 patients with CHARGE association
Author(s) -
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
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.610208.x
Subject(s) - charge syndrome , choanal atresia , comparative genomic hybridization , genetics , locus (genetics) , coloboma , biology , genetic association , hypoplasia , atresia , chromosome , single nucleotide polymorphism , gene , genotype , anatomy
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.