PMID- 9272163 OWN - NLM STAT- MEDLINE DCOM- 19970925 LR - 20220321 IS - 0340-6717 (Print) IS - 0340-6717 (Linking) VI - 100 IP - 3-4 DP - 1997 Sep TI - Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH). PG - 401-6 AB - Endometriosis affects 10-15% of women of reproductive age and is a common cause of infertility and pelvic pain. Although endometriosis is characterized by abnormal growth or turn-over of cells, the genetic changes involved remain unclear. We employed a multi-color fluorescence in situ hybridization (FISH) strategy to determine the incidence of somatic chromosomal numeric alterations in severe/late stage endometriosis. Using alpha-satellite sequence-specific DNA probes for chromosomes 7, 8, 11, 12, 16, 17, and 18, simultaneous two- and three-color FISH were performed to evaluate the frequency of monosomic, disomic, and trisomic cells in normal control and endometriotic tissue specimens. In one of four endometriosis samples studied, a significantly higher frequency of monosomy for chromosome 17 (14.8%, chi 2(4) = 53.3, P < 0.0001) and 16 (8.8%, chi 2(4) = 11.4, P < 0.05) was observed. An increased number of cells with chromosome 11 trisomy (14.8%, chi 2(4) = 96.2, P < 0.0001) were detected in a second case. In a third case, a distinct colony of nuclei with chromosome 16 monosomy (14.1%, chi 2(4) = 21.39, P < 0.005) was detected. Acquired chromosome-specific aneuploidy may be involved in endometriosis, reflecting clonal expansion of chromosomally abnormal cells. That candidate tumor suppressor genes and oncogenes have been mapped to chromosomes 11, 16, and 17 suggests that chromosomal loss or gain plays a role in the development and/or progression of endometriosis. FAU - Shin, J C AU - Shin JC AD - Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA. FAU - Ross, H L AU - Ross HL FAU - Elias, S AU - Elias S FAU - Nguyen, D D AU - Nguyen DD FAU - Mitchell-Leef, D AU - Mitchell-Leef D FAU - Simpson, J L AU - Simpson JL FAU - Bischoff, F Z AU - Bischoff FZ LA - eng PT - Journal Article PL - Germany TA - Hum Genet JT - Human genetics JID - 7613873 SB - IM MH - *Aneuploidy MH - Color MH - Endometriosis/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/*methods EDAT- 1997/09/01 00:00 MHDA- 1997/09/01 00:01 CRDT- 1997/09/01 00:00 PHST- 1997/09/01 00:00 [pubmed] PHST- 1997/09/01 00:01 [medline] PHST- 1997/09/01 00:00 [entrez] AID - 10.1007/s004390050524 [doi] PST - ppublish SO - Hum Genet. 1997 Sep;100(3-4):401-6. doi: 10.1007/s004390050524.