Literature DB >> 8042676

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

J C Barber1, R S James, C Patch, I K Temple.   

Abstract

We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication. Similar investigations of inverted duplications involving other chromosomes may reveal unexpected deletions with significant phenotypic consequences.

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Mesh：

Year:  1994        PMID： 8042676     DOI： 10.1002/ajmg.1320500315

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

Authors:  S L Graw; T Sample; J Bleskan; E Sujansky; D Patterson
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

Authors:  G Floridia; M Piantanida; A Minelli; C Dellavecchia; C Bonaglia; E Rossi; G Gimelli; G Croci; F Franchi; S Gilgenkrantz; P Grammatico; L Dalprá; S Wood; C Danesino; O Zuffardi
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

3.  Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Authors:  J C Barber; C A Joyce; M N Collinson; J C Nicholson; L R Willatt; H M Dyson; M S Bateman; A J Green; J R Yates; N R Dennis
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

4.  Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Authors:  J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

5.  Genomic profile of copy number variants on the short arm of human chromosome 8.

Authors:  Shihui Yu; Stephanie Fiedler; Andrew Stegner; William D Graf
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

6.  An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome.

Authors:  Vivek Kumar; Shuvendu Roy; Gaurav Kumar
Journal:  J Pediatr Genet       Date:  2018-04-04

7.  46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

Authors:  Anna A Kashevarova; Tatyana V Nikitina; Larisa I Mikhailik; Elena O Belyaeva; Stanislav A Vasilyev; Mariya E Lopatkina; Dmitry A Fedotov; Elizaveta A Fonova; Aleksei A Zarubin; Aleksei A Sivtsev; Nikolay A Skryabin; Lyudmila P Nazarenko; Igor N Lebedev
Journal:  Genes (Basel)       Date:  2020-12-09       Impact factor: 4.096
  7 in total

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