A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Figure 1

Karyotype, array-CGH analysis and schematic representation of the deleted region with reported DECIPHER cases. (a) The G-band karyotype of the patient. Black arrows indicate translocated chromosomes. (b) Chromosome 13 array-CGH results [arr 13q12.2q13.1 (28,875,081x2, 28,963,865-31,955,272x1, 32,313,799x2)dn]. (c) A scheme of the deleted region with distances in Mb and the Refseq genes are reported (GRCh37/hg19). The region deleted in our patient (code: 263218, orange bar) and the overlapping reported deletions (red bars) as shown by the Decipher database (http://decipher.sanger.ac.uk/, version 5.1) are reported. Above each bar the extension of the rearrangement and the mode of inheritance is reported (dn: de novo; pat: paternal origin, and un: unknown).

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