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Quoted phrase not found in phrase index: "22q Telomere Deletion Syndrome"
Page 1
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Ziats CA, et al. Eur J Med Genet. 2020 Nov;63(11):104042. doi: 10.1016/j.ejmg.2020.104042. Epub 2020 Aug 19. Eur J Med Genet. 2020. PMID: 32822873 Review.
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by rearrangements on chromosome 22q13.3 or sequence variants in SHANK3. Individuals with PMS caused by a 22q terminal deletion and a ring chromosome are at increased risk for N …
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by rearrangements on chromosome 22q13.3 or sequence …
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O. Bonaglia MC, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):148-55. doi: 10.1016/j.ejmg.2007.11.005. Epub 2007 Dec 8. Eur J Med Genet. 2008. PMID: 18226592
We report the second instance of a complex unbalanced rearrangement consisting of distal trisomy 6p and 20q due to the concurrent transposition of distal 6p and 20q to the 22q telomere, previously described as a benign familial chromosomal variant. ...However, genot …
We report the second instance of a complex unbalanced rearrangement consisting of distal trisomy 6p and 20q due to the concurrent transposit …
Cryptic subtelomeric translocations in the 22q13 deletion syndrome.
Praphanphoj V, Goodman BK, Thomas GH, Raymond GV. Praphanphoj V, et al. J Med Genet. 2000 Jan;37(1):58-61. doi: 10.1136/jmg.37.1.58. J Med Genet. 2000. PMID: 10633138 Free PMC article.
Chromosome studies suggested an abnormality involving the telomere of one 22q (46,XX,?add(22)(q13. 3)). FISH using Oncor D22S39 and Vysis ARSA probes confirmed a terminal deletion. ...We also re-examined chromosomes from two patients previously diagnosed with …
Chromosome studies suggested an abnormality involving the telomere of one 22q (46,XX,?add(22)(q13. 3)). FISH using Oncor D22S3 …
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
McClarren J, Donnenfeld AE, Ravnan JB. McClarren J, et al. Prenat Diagn. 2006 Dec;26(13):1212-5. doi: 10.1002/pd.1590. Prenat Diagn. 2006. PMID: 17099929
The presence of an interstitial deletion in a ring chromosome is therefore unusual. FISH analysis revealed an unexpected deletion involving the TUPLE1 gene in the DiGeorge/Velocardiofacial syndrome region in 22q11.2. Maternal chromosome analysis reveal …
The presence of an interstitial deletion in a ring chromosome is therefore unusual. FISH analysis revealed an unexpected deletion …
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.
DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. DeScipio C, et al. Am J Med Genet A. 2008 Mar 15;146A(6):730-9. doi: 10.1002/ajmg.a.32216. Am J Med Genet A. 2008. PMID: 18257100
Several of these have been described as clinically recognizable syndromes (e.g., deletion of 1p, 3p, 5q, 6p, 9q, and 22q). Given this, fine-mapping of subtelomeric breakpoints is of increasing importance to the assessment of genotype-phenotype correlations in …
Several of these have been described as clinically recognizable syndromes (e.g., deletion of 1p, 3p, 5q, 6p, 9q, and 22q …
Two 22q telomere deletions serendipitously detected by FISH.
Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, Christian SL, Kittikamron K, Ledbetter DH. Precht KS, et al. J Med Genet. 1998 Nov;35(11):939-42. doi: 10.1136/jmg.35.11.939. J Med Genet. 1998. PMID: 9832042 Free PMC article.
Our two cases increase the total number of reported 22q telomere deletions to 19, the majority of which were identified by cytogenetic banding analysis. ...Of additional interest is the phenotypic overlap with Angelman syndrome (AS) as it raises the po …
Our two cases increase the total number of reported 22q telomere deletions to 19, the majority of which were identified …