Utility of subtelomeric fluorescent DNA probes for detection of XXXX in 425 @entity1 .

@entity1 @entity154 @entity1032 @entity245 @entity24328 @entity854 @entity2008
PURPOSE: A complete set of subtelomeric fluorescent DNA probes, except the acrocentric p-arms, was developed in 1996, was optimized in 1998, and is commercially available. These and other fluorescence in situ hybridization (FISH) probes have been used to detect anomalies of the subtelomere regions among groups of @entity1 with @entity1032 (MR), @entity245 ( @entity245 ), and/or @entity154 ( @entity154 ), and individuals with multiple miscarriages (MM) who were karyotypically normal by standard G-banding techniques. METHODS: A total of 425 @entity1 were analyzed, of whom 372 had idiopathic MR/ @entity245 / @entity154 and 53 were involved in MM. An effort was made to select individuals for this study who were either normal karyotypically or who had @entity2008 that were inconclusive by banded chromosome analysis, although this was not always possible. RESULTS: Anomalies involving the subtelomere regions were detected at a frequency of 6.8% in the MR/ @entity245 / @entity154 group. The cryptic or subtle anomalies are estimated to be about 3.4%. It was necessary to use @entity24328 , chromosome, and locus specific FISH probes to clarify some of the abnormalities. No abnormalities were detected in the MM group. Deletion variants were present for 2qter, 7pter, and Xpter/Ypter subtelomeric regions ranging from <1 to 9.6%. CONCLUSIONS: The subtelomeric FISH probes are instrumental in the detection of @entity154 in a significant proportion, although no more than 50% are subtle, of @entity1 with idiopathic MR/ @entity245 / @entity154 . In some cases, however, it was necessary to use other FISH probes to clarify the nature of these abnormalities. No @entity854 were detected in our group of 53 MM @entity1 , suggesting a relatively low frequency of occurrence in this @entity1 population.
