1q21.1 microdeletion syndrome (TAR syndrome)

Deletions of the chromosome region 1q21.1 have recently been linked with manifestation of Thrombocytopenia-Absent Radius (TAR) syndrome, which is characterized by megakaryocytic thrombocytopenia and bilateral radial aplasia, as well as cardiac defects. Although the majority of cases occur de novo, several cases have been reported to be inherited by normal parents. Deletions responsible for 1q21.1 microdeletion syndrome may vary, extending to various loci of this region, but they typically include the HFE2, RBM8A, PEX11B, and CD160 genes.

We perform an MLPA technique, employing multiple probes recognizing specific DNA sequences in the region of interest, enabling us to detect deletions of specific sequences known to be responsible for >99% of cases.

This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.