Literature DB >> 2888552

Inverted tandem duplication generates a duplication deficiency of chromosome 8p.

F J Dill1, M Schertzer, J Sandercock, B Tischler, S Wood.   

Abstract

An adult female with sever mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (p12----p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23----8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.

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Mesh：

Year:  1987        PMID： 2888552     DOI： 10.1111/j.1399-0004.1987.tb03335.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 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.  Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Authors:  C M Moore; K Barnum; C I Kaye; K S Kagan-Hallett; J C Liang
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  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

4.  Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.

Authors:  N C Nevin; P J Morrison; J Jones; M M Reid
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

5.  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

6.  Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21-->pter) in a Bedouin child with multiple congenital anomalies and mental retardation.

Authors:  A A Redha; D S Murthy; H Kandil; T I Farag; R Usha; S A al-Awadi; L A Jeryan; K al-Nagdy; M el-Ghanem
Journal:  Indian J Pediatr       Date:  1994 May-Jun       Impact factor: 1.967

7.  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

8.  De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.

Authors:  Paolo Fontana; Laura Bernardini; Cinzia Lombardi; Maria Grazia Giuffrida; Maria Ciavarella; Anna Capalbo; Marianna Maioli; Francesca Scarano; Giuseppina Cantalupo; Mariateresa Falco; Gioacchino Scarano; Fortunato Lonardo
Journal:  J Pediatr Genet       Date:  2020-06-19

9.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

10.  D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

Authors:  A Minelli; G Floridia; E Rossi; M Clementi; R Tenconi; L Camurri; F Bernardi; H Hoeller; C Previde Re; P Maraschio
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132
  10 in total

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