Literature DB >> 1248179

An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl.

P Baĺicek, J Zizka, J Lichý.   

Abstract

A 2.5-year-old girl with several congenital anomalies is described. Chromosomal analysis suggests the presence of a small extra metacentric chromosome which was identified as isochromosome 18p by means of R-banding and C-banding.

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Year:  1976        PMID： 1248179     DOI： 10.1111/j.1399-0004.1976.tb01567.x

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


  6 in total

1.  Inversion 19 and isochromosome short arm 17 or 18.

Authors:  J Nielsen; A Homma; V Holm
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

2.  The origin and behavior of two isodicentric bisatellited chromosomes.

Authors:  D L Van Dyke; L Weiss; M Logan; G S Pai
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

3.  Tetrasomy 18p: tentative delineation of a syndrome.

Authors:  D A Batista; A M Vianna-Morgante; A Richieri-Costa
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

4.  Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.

Authors:  R Plattner; N A Heerema; Y B Yurov; C G Palmer
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

5.  Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

Authors:  K B Nielsen; H Dyggve; U Friedrich; N Hobolth; T Lyngbye; M Mikkelsen
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132

6.  Tetrasomy 18p: case report and review of literature.

Authors:  Shahad Bawazeer; Maha Alshalan; Aziza Alkhaldi; Nasser AlAtwi; Mohammed AlBalwi; Abdulrahman Alswaid; Majid Alfadhel
Journal:  Appl Clin Genet       Date:  2018-02-08
  6 in total

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