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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

Fig. 3

Results of array-CGH and FISH analyses. a Array-CGH analysis shows a ~539 Kb microdeletion at 1q21.1 band inherited from the father. b FISH confirmation of a hemizygous interstitial 1q21.1 deletion using a BAC probe RP11-105E14 (chr1:145,474,158-145,636,051) (red). c Interphase FISH with RP11-105E14 (chr1:145,474,158-145,636,051) (red) on deparaffinized fetal tissue from patient II, 3. Nuclei show a unique red signal indicating the presence of the deletion. d Overview of the 1q21.1 region and its genes and LCRs contents, according to the UCSC Genome Browser (GRCh37/hg19 assembly). The bars indicate the deleted region (red) in our patient and the deleted regions in patients reported by Guastadisegni et al. [28], Papoulidis et al. [30] and Bottillo et al. [29].

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Molecular Cytogenetics

ISSN: 1755-8166