Literature DB >> 6585144

Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter.

L A Knight, M Lipson, J Mann, R Bachman.   

Abstract

A mosaic marker chromosome was observed in 2 generations. Multiple staining techniques identified it as an inverted duplication of chromosome 15 (inv dup 15) derived from the paternal grandmother. Although this inv dup 15 included a central R band, there was no noticeable phenotypic effect.

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Year:  1984        PMID： 6585144     DOI： 10.1002/ajmg.1320170315

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


  7 in total

1.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Authors:  D Warburton
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

2.  Forty four probands with an additional "marker" chromosome.

Authors:  K E Buckton; G Spowart; M S Newton; H J Evans
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 3.  Inv dup(15) supernumerary marker chromosomes.

Authors:  T Webb
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

4.  Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

Authors:  A E Wandstrat; J Leana-Cox; L Jenkins; S Schwartz
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

5.  Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

Authors:  J Leana-Cox; L Jenkins; C G Palmer; R Plattner; L Sheppard; W L Flejter; J Zackowski; F Tsien; S Schwartz
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

6.  Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

Authors:  S D Cheng; N B Spinner; E H Zackai; J H Knoll
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

7.  Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.

Authors:  Yinghong Lu; Yi Liang; Sisi Ning; Guosheng Deng; Yuling Xie; Jujie Song; Na Zuo; Chunfeng Feng; Yunrong Qin
Journal:  Mol Cytogenet       Date:  2020-06-10       Impact factor: 2.009
  7 in total

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