Literature DB >> 1997216

Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality.

M Gorinati1, D Caufin, A Minelli, L Memo, G Gaspardo, A Dodero.   

Abstract

We report a male infant with a de novo inverted duplication of bands 8p 21.1----22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.

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Year:  1991        PMID： 1997216     DOI： 10.1111/j.1399-0004.1991.tb02985.x

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


  4 in total

1.  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

Review 2.  Mechanisms of structural chromosomal rearrangement formation.

Authors:  Bruna Burssed; Malú Zamariolli; Fernanda Teixeira Bellucco; Maria Isabel Melaragno
Journal:  Mol Cytogenet       Date:  2022-06-14       Impact factor: 1.904

Review 3.  Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman.

Authors:  Jianjiang Zhu; Hong Qi; Sha Cao; Lirong Cai; Xiaohui Wen; Guodong Tang; Qian Wan; Chen Chen; Juan Wang; Wen Zeng; Yao Luo
Journal:  Mol Genet Genomic Med       Date:  2019-07-17       Impact factor: 2.183

4.  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
  4 in total

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