The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

Table 3 List of the imbalances found in the analysis of the Dysgerminoma.

Chr	Chromosome Band	Gain/Loss*	Position	Size (Mb)	Notes
Chr 2	2p24.1 → 2q37.1	enh	Chr2:24,134,000..233,241,000	209.10	mosaic 30%
Chr 2	2q37.1 → qtel	enh	Chr2:233,241,000..242,951,149	9.71	More copies
Chr 4	4q21.21 → qtel	dim	Chr4:80,599,000..191,273,063	110.70	mosaic 30%
Chr 8	8ptel → q24.13	enh	Chr8:1..125,719,000	125.70
Chr 8	8q24.13 → qtel	enh	Chr8:125,719,000..146,274,826	20.56	mosaic 30%
Chr 11	11p15.3 → 11q23.3	dim	Chr11:11,570,000..119,487,000	107.90	mosaic 30%
Chr 11	11q23.3 → qtel	dim	Chr11:119,487,000..134,452,384	14.97
Chr 12	12ptel → q23.1	enh	Chr12:1..94,196,000	94.20	More copies
Chr 12	12q23.1 → qtel	enh	Chr12:94,196,000..132,349,534	38.15
Chr 17	17q21.3 → qtel	enh	Chr17:38,922,000..78,774,742	39.85	mosaic 30%

Regions interested by the deletions/duplications/triplications are reported together with their mapping position and cytogenetic bands (hg 17/Build 35, May 2004), The size of each imbalance is always related to the platform resolution having 100 kb average distribution of the clones along the genome. The size of the intervening regions is shown, although it should be considered that breakpoints may fall within a segment of 100 kb (average) proximal and distal to the starting and ending clones. * Enh = enhanced log2 ratio (gain); dim = diminished log2 ratio (loss).

ISSN: 1476-4598