Literature DB >> 8506217

Prenatal detection of monosomy 21 mosaicism.

A Ghidini1, S Fallet, J Robinowitz, C J Lockwood, R Dische, J Willner.   

Abstract

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.

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Year:  1993        PMID： 8506217     DOI： 10.1002/pd.1970130303

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  3 in total

1.  Full monosomy 21: echocardiographic findings in the third molecularly confirmed case.

Authors:  D Fisher; A Dipietro; K A Murdison; C A Lemieux
Journal:  Pediatr Cardiol       Date:  2012-05-06       Impact factor: 1.655

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.  Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Authors:  Cathrine Jespersgaard; Ida N Damgaard; Nanna Cornelius; Iben Bache; Niels Knabe; Maria J Miranda; Zeynep Tümer
Journal:  Mol Cytogenet       Date:  2016-02-04       Impact factor: 2.009
  3 in total

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