Literature DB >> 7747753

Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.

P Gill1, S Uhrich, C Disteche, E Cheng.   

Abstract

We report a case of 45,XY,-5,-21,+der (5) t(5;21) (p13 or p14;q11.2 or q21) that was prenatally misdiagnosed as complete monosomy 21 and terminated at 24 weeks of gestation. Subsequent fluorescence in situ hybridization studies with a chromosome 21 painting probe documented the cryptic unbalanced translocation.

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Year:  1994        PMID： 7747753     DOI： 10.1002/ajmg.1320520405

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


  5 in total

1.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

2.  Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.

Authors:  Trent Burgess; Lilian Downie; Mark D Pertile; David Francis; Melissa Glass; Sara Nouri; Rosalynn Pszczola
Journal:  Case Rep Genet       Date:  2014-02-04

3.  Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Authors:  Meng Su; Paul J Benke; Guney Bademci; Filiz Basak Cengiz; Xiaomei Ouyang; Jinghong Peng; Carmen E Casas; Mustafa Tekin; Yao-Shan Fan
Journal:  Mol Cytogenet       Date:  2018-08-01       Impact factor: 2.009

4.  Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.

Authors:  Svetlana G Vorsanova; Ivan Y Iourov; Victoria Y Voinova-Ulas; Anja Weise; Victor V Monakhov; Alexei D Kolotii; Ilia V Soloviev; Petr V Novikov; Yuri B Yurov; Thomas Liehr
Journal:  Mol Cytogenet       Date:  2008-06-19       Impact factor: 2.009

5.  Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.

Authors:  Valentine Marquet; Dominique Bourgeois; Philippe De Mas; Laurence Bouneau; Adeline Vigouroux-Castera; Romain Molignier; Patrick Calvas
Journal:  Clin Case Rep       Date:  2015-08-20
  5 in total

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