Figure 1

A) SubcenM-FISH revealed the absence of euchromatic material on the sSMC^T reported here. The sSMC^T only showed one specific signal, each, for midi 54 (a probe specific for the acrocentric short arms) and the centromeric probe specific for chromosome 14 and 22 (cep 14/22). No specific signals were on the sSMC^T for the centromere-near probe RP11-324B11 in 14q11.2 and partial chromosome painting probe of chromosome 14 (the latter not depicted here). Thus, the sSMC^T was a del(14)(q11.1). B) After knowing the origin of the sSMC array-CGH was reanalyzed for 14q-proximal region. The first probe on Agilent 4x44K array location is on 19,365,051-19,365,110 at 14q11.2. Thus, only genes from olfactory receptors OR11H12, OR4M1 and OR4Q3, and POTEG and P704P may be involved in the marker chromosome. As it is a region known to be CNV polymorphic and the probe RP11-324B11 at 19,886,099-19,886,646 is not present on the marker according to FISH array-CGH overall is to be considered as non-informative for this sSMC.