Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region

摘要: The deletion at 22q11.2 implicates a variety of congenital anomaly syndromes, for which the acronym CATCH22 has been proposed . Most patients with these syndromes share common large spanning 1-2 Mb, while phenotypic variability does not seem to correlate extent deletions. On basis deletions rare cases unbalanced translocation, shortest region overlap (SRO) had identified in most-centromeric deletion. One patient (ADU) reported carry balanced translocation breakpoint located SRO. Recently, three transcripts were or very close ADU (ADUBP), making them strong candidates syndrome. Here, we describe one unique revealed by quantitative hybridization and/or FISH six DNA markers was dizygous loci within SRO and hemizygous only most-telomeric locus This finding suggests that there must be another critical besides haploinsufficiency genes this may also play amore » major role pathogenesis. 15 refs., 3 figs.« less