Literature DB >> 2368801

Tetrasomy 18p in a child with trisomy 18 phenotype.

T S Singer1, G Kohn, S Yatziv.   

Abstract

We report on a patient with trisomy 18 syndrome and tetrasomy 18p. The case indicates that the presence of an isochromosome i(18p) can mimic complete trisomy 18 syndrome.

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Year:  1990        PMID： 2368801     DOI： 10.1002/ajmg.1320360204

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


  5 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.  Adults with Chromosome 18 Abnormalities.

Authors:  Bridgette Soileau; Minire Hasi; Courtney Sebold; Annice Hill; Louise O'Donnell; Daniel E Hale; Jannine D Cody
Journal:  J Genet Couns       Date:  2014-11-19       Impact factor: 2.537

3.  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

4.  A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

Authors:  J A Crolla; N R Dennis; P A Jacobs
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

5.  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
  5 in total

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