Literature DB >> 20966746

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

Meena Balasubramanian1, Luiz Cesar Peres, Dorothy Pelly.   

Abstract

We report a fetus with mosaic trisomy 11 who also had bilateral renal agenesis. We describe the post-mortem examination findings in the fetus and cytogenetic analysis. There are no earlier reports of full trisomy 11, presumably because it is lethal and results in early spontaneous miscarriages. There is only one report published earlier in a fetus with mosaic trisomy 11. There have been a few case reports of trisomy 11 identified in pre-natal samples, where it was associated with normal outcome. Bilateral renal agenesis has not been reported earlier in association with mosaic nor non-mosaic trisomy 11. We describe this rare cytogenetic finding in a fetus with bilateral renal agenesis. We also discuss the issues around genetic counselling when this is encountered in clinical practice.

Mesh:

Year:  2011        PMID: 20966746     DOI: 10.1097/MCD.0b013e32833ff2e9

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

Review 1.  Constitutional and acquired autosomal aneuploidy.

Authors:  Colleen Jackson-Cook
Journal:  Clin Lab Med       Date:  2011-12       Impact factor: 1.935

2.  [Genetic testing and analysis of 2 cases of trisomy 11 mosaicism].

Authors:  X Xie; Q Zhao; Y Fu; W Zhang; Y Meng; Y Lu
Journal:  Nan Fang Yi Ke Da Xue Xue Bao       Date:  2022-07-20

3.  First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).

Authors:  Sinem Yalcintepe; Drenushe Zhuri; Hazal Sezginer Guler; Engin Atli; Selma Demir; Emine Ikbal Atli; Cisem Mail; Hakan Gurkan
Journal:  Mol Syndromol       Date:  2022-02-01
  3 in total

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