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Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy

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Abstract

Case report

A fetus with rhombencephalosynapsis and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis from amniocyte culture revealed non-mosaic supernumerary chromosome identified as isochromosome 9p (9p24→q13::q13→p24). Ultrasound scan revealed intrauterine growth retardation, renal anomalies, cardiac anomalies, ventriculomegaly, and agenesis of cerebellar vermis with fusion of the cerebellar hemispheres.

Conclusion

Although most cases of cerebellar vermis agenesis in tetrasomy 9p are described with cystic malformation such as Dandy-Walker anomaly, our case indicates that this chromosomal disorder should be taken into account in fetuses with the development of cystic and non-cystic malformations of cerebellar vermis and posterior fossa.

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Authors and Affiliations

  1. Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University “Gabriele d’Annunzio”, d’Annunzio Foundation, Chieti, Italy

    Elena di Vera, Marco Liberati & Claudio Celentano

  2. Department of Genetics, University “Gabriele d’Annunzio”, d’Annunzio Foundation, Chieti, Italy

    Giuseppe Calabrese, Paolo Emilio Guanciali-Franchi & Elisena Morizio

  3. Division of Maternal-Fetal Medicine, Cedars-Sinai Medical Center, UCLA, Los Angeles, LA, USA

    Sigfried Rotmensch

Authors
  1. Elena di Vera
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  2. Marco Liberati
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  3. Claudio Celentano
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  4. Giuseppe Calabrese
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  5. Paolo Emilio Guanciali-Franchi
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  6. Elisena Morizio
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  7. Sigfried Rotmensch
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Corresponding author

Correspondence to Elena di Vera.

Additional information

Capsule Tetrasomy 9p in a polymalformed fetus with rhombencephalonsynapsis is described in a pregnancy conceived by ICSI.

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di Vera, E., Liberati, M., Celentano, C. et al. Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. J Assist Reprod Genet 25, 577–580 (2008). https://doi.org/10.1007/s10815-008-9257-7

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  • DOI: https://doi.org/10.1007/s10815-008-9257-7

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