- ... 8523220 ] Walsh LE, Vance GH, Weaver DD. Distal 13q deletion syndrome and the VACTERL association: case report, literature review, ...
- ... Dave BJ, et al.: An increased frequency of 13q deletions detected by fluorescence in situ hybridization and its ...
- ... most pronounced declines were observed in patients with 13q deletion.[ 80 ] In contrast, a study of long-term ... Wilms tumor who develop chronic renal failure have syndromes accompanying WT1 mutations or deletions that predispose to renal disease. Data from the ...
- ... impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55(6):478-82. ... P, Vapalahti M. Retinoblastoma associated with chromosomal 13q14 deletion mosaicism. ... in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 1998 Jan;18(1):84-7. ...
- ... not present with clear features of Loeys-Dietz syndrome. Smaller deletions/duplications that lead to in frame events are ... H, Brenner RE, Borck G. 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. Am J Med Genet ...
- ... et al.: High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 26 (6): 513-9, 2005. [ PubMed : ...
- ... applicable; XL = X-linked 1. Pearson marrow-pancreas syndrome is caused by mtDNA contiguous gene deletions/duplications (OMIM 557000 ). 2. Venet et al [2017] ...
- ... expression of the downstream GJB2 , presumably due to deletion of a cis -regulatory element. Inheritance is autosomal recessive . Keratitis-ichthyosis-deafness (KID) syndrome (OMIM 148210 ). Jan et al [2004] reported a ...
- ... diagnostic changes in hematological malignancies (such as a deletion in the long arm of chromosome 5 in myelodysplastic syndrome), to look for gene amplification (e.g., HER2/ ...
- ... in situ hybridization (FISH) (for del(11q), del(13q), del(17p), trisomy 12, and t(11;14)). ... The following chromosomal abnormalities have been reported: del(13q) is a favorable prognostic marker (with a 17- ...
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