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Trisomie 12 en mosaïque diagnostiquée sur signes d’appel échographiques

Trisomy 12 mosaicism diagnosed on fetal ultrasonography

  • Cas Clinique / Case Report
  • Published:
Revue de médecine périnatale

Résumé

La trisomie 12 en mosaïque est une mosaïque chromosomique rare, ce qui rend son diagnostic anténatal et sa prise en charge délicats. On retrouve dans la littérature 36 cas dépistés en période anténatale, six en période postnatale et dans seulement cinq cas l’échographie fœtale était à l’origine du diagnostic. À partir d’un nouveau cas diagnostiqué sur des signes d’appel échographiques au CHU de Grenoble et en nous appuyant sur les données de la littérature, nous essayons de faire le point sur les éléments de diagnostic échographiques et phénotypiques pertinents afin d’améliorer le dépistage et le conseil génétique de cette pathologie.

Abstract

Trisomy 12 mosaicism is a rare chromosomal mosaicism witch makes fetal prenatal diagnosis and coverage complicated. We find in literature 36 antenatal detected cases and 6 postnatal; and in only 5 cases the fetal ultrasonography was at the origin of the diagnosis. From a new case diagnosed in prenatal on ultrasound signs at the CHU of Grenoble, and by studying the literature, we attempt to review the relevant ultrasound and phenotypic elements of diagnosis to improve the screening and the genetic counseling.

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Authors and Affiliations

  1. Service de gynécologie-obstétrique, Hôpital couple-enfant, BP 217, F-38043, Grenoble cedex 09, France

    C. Vidal, V. Delorme & F. Sergent

  2. Centre pluri-disciplinaire de diagnostic prénatal, Hôpital couple-enfant, BP 217, F-38043, Grenoble cedex 09, France

    S. Boulet

Authors
  1. C. Vidal
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  2. S. Boulet
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  3. V. Delorme
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  4. F. Sergent
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Correspondence to C. Vidal.

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Vidal, C., Boulet, S., Delorme, V. et al. Trisomie 12 en mosaïque diagnostiquée sur signes d’appel échographiques. Rev. med. perinat. 4, 80–85 (2012). https://doi.org/10.1007/s12611-012-0182-8

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  • DOI: https://doi.org/10.1007/s12611-012-0182-8

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