Leslie Boghosian-Sell

TL;DR: Physical mapping of the 7;18 translocation has identified two YAC clones that span the translocation breakpoint on chromosome 18 as determined by FISH, useful for the eventual identification of genes that map to chromosomes 7 and 18 at the site of the translocated.

TL;DR: Clonal chromosomal abnormalities were present in nine cases of primary uveal melanoma and included gain of material from 6 and/or loss from 6q, and trisomy of chromosome 8 or gain in material from 8q resulting in three to five copies of the 8q segment was seen in six cases.

TL;DR: It is confirmed that there is no single region on 18q that is sufficient to produce the trisomy 18 phenotype and identified two regions on 18Q that may work in conjunction to production of the Edwards syndrome phenotype.

TL;DR: A panel of rodent-human hybrids carrying portions of 3p, including a hybrid carrying the derivative 8 (der(8)(8pter-->8q24.1::3p14.2-->3pter)) from the RCC family, have been characterized using 3p anchor probes and cytogenetic methods, and a large number of genetically mapped probes were mapped into seven physical intervals between 3p12 and 3pter defined by the hybrid panel.

TL;DR: This work presents a patient with a phenotype similar to AMS who has a complex rearrangement of chromosome 18, involving both an inversion and interstitial deletion, and proposes that the gene(s) for this phenotype may lie on chromosome 18 in the region of the deletion or inversion breakpoints.