Article
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.
American journal of medical genetics. Part A - 1 May 2008
Caselli Rossella, Mencarelli Maria Antonietta, Papa Filomena Tiziana, Ariani Francesca, Longo Ilaria, Meloni Ilaria, Vonella Giuseppina, Acampa Maurizio, Auteri Alberto, Vicari Stefano, Orsi Alessandra, Hayek Giuseppe, Renieri Alessandra, Mari Francesca
Abstract excerpt
Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. These deletions are easily detectable with routine subtelomeric MLPA analysis. Deletions affecting a more proximal part of 7q36, namely bands 7q36.1q36.2 are less common, and may be missed by subtelomeric MLPA analysis. We...
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