WebAfter molecular confirmation of a subtelomeric deletion in one patient, FISH analysis was used and a cryptic translocation between the long arms of chromosomes 2 and 8, t (2;8) (q37.3;q24.3), was detected. Remarkably, five proven and 10 probable cases with a 2qter deletion were found in the family, but none with an 8qter deletion. WebTwo MDS patients with cryptic translocations were also studied. In one case, a patient and her mother had the same der(17) (p+), but the reciprocal product of the translocation …
Detection of deletions and cryptic translocations in Miller …
WebDec 7, 2024 · Cryptic or masked translocation occurs in 2-10% patients with no cytogenetic evidence for the BCR/ABL rearrangement but are positive by FISH and/or (RT-PCR. Cryptic BCR/ABL rearrangements can be found in cases with a normal karyotype and in cases with complex karyotype in which the t (9;22) is not detected by conventional … WebSeveral investigators used FISH to detect submicroscopic deletion and cryptic translocations involving chromosome 22. 37–41 Two children with hypotonia, developmental delay, and absent speech were serendipitously found to have cryptic deletions of 22q13 after one child was referred for FISH to rule out DiGeorge syndrome, … flush control valve
Philadelphia chromosome - Wikipedia
WebAll high-confidence cryptic chromosomal translocations detected by OGM were confirmed by sequencing analysis of rearrangement breakpoints. Moreover, OGM revealed … WebFeb 8, 2007 · A cryptic t(11;17)(p15;p13) translocation in AML. (a) Karyotype of a bone marrow cell with a possible abnormality in chromosome 17p13. (b) FISH revealed translocation breakpoint on 17p. BAC RP11 ... Webin situ hybridisation (FISH) studies of translocation break-points have reported the existence of cryptic deletions near translocation breakpoints.9 The application of high resolution platforms to detect copy number changes in carriers of apparently balanced translocations is now revealing that conventional cytogenetics may have resulted in ... flush controller