Literature DB >> 7923860

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.

E Back1, R Toder, I Voiculescu, A Wildberg, W Schempp.   

Abstract

This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that the marker chromosome consisted of chromosome 18 material in both cases.

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Year:  1994        PMID： 7923860     DOI： 10.1111/j.1399-0004.1994.tb04035.x

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


  3 in total

1.  De novo isochromosome 18p in a female dysmorphic child.

Authors:  Smitha Ramegowda; Harshavardhan M Gawde; Abbas Hyderi; Mysore R Savitha; Zareen M Patel; Balasundaram Krishnamurthy; Nallur B Ramachandra
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

2.  Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

Authors:  Mahmut Balkan; Hatun Duran; Turgay Budak
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

3.  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
  3 in total

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