FIGURE 1
FROM:
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
Marianne Stef, Delphine Simon, Béatrice Mardirossian, Marie-Ange Delrue, Ingrid Burgelin, Christophe Hubert, Michèle Marche, Françoise Bonnet, Philippe Gorry, Michel Longy, Didier Lacombe, Isabelle Coupry and Benoît Arveiler
BACK TO ARTICLEFigure 1.
Summary of deletion results. (a) Large deletions. A schematic representation of the 2 Mb tiling path contig including 34 cosmid (plain lines) and seven BAC (dotted lines) clones is shown at the top. In the middle is shown a physical map including the CREBBP gene. Positions are given in Megabasepairs from the 16p telomere. The patients' deletions are represented underneath. Patient numbers are indicated on the right. Not deleted regions are indicated by black lines, deleted regions by white lines. (b) Small intragenic gene dosage anomalies. The upper line depicts the CREBBP gene structure (31 exons). The aCBP line indicates the position of the low-molecular-weight targets used in array-CGH with respect to the CREBBP exons. The qCBP line indicates the position of the QMF-PCR assays with respect to the CREBBP exons. The patients' deletions are represented underneath. Patient numbers are indicated on the right. Not deleted regions are indicated by black lines, deleted regions by white lines; the duplicated area in patient p62 is represented by a hatched box.
