Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions. - Archive ouverte HAL Access content directly
Journal Articles European Journal of Medical Genetics Year : 2012

Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions.

(1, 2) , (1, 2) , (1, 3) , (4) , (5) , (1) , (4) , (1, 2)
1
2
3
4
5

Abstract

In this report, we describe a case of multiple small supernumerary marker chromosomes (sSMC) presenting with recurrent abortions. Peripheral blood lymphocytes of a young, healthy and non-consanguineous couple who asked for genetic evaluation after two spontaneous miscarriages were obtained for karyotypes. Lymphocytes of the woman were analyzed by FISH techniques and DNA was extracted and used for array CGH investigation. Karyotyping revealed 48,XX,+2mar[24]/47,XX,+mar[5]/46,XX[3] for the woman and 46,XY for her husband. FISH analysis showed that the two sSMC consisted of chromosomes 6 and 20. Array CGH analysis showed gains of the 6p11.2q12 (9 Mb) and 20 p11.21 (3.3 Mb) chromosomal regions with a total of 42 genes present on both sSMC. Our findings support also the hypothesis that the modification of the expression of some genes involved in embryo implantation, like THBD gene, could be responsible in the recurrent abortions. This report underpins the necessity of array CGH for characterizing precisely sSMC and helping in genotype-phenotype correlations. Furthermore, a literature review on sSMC is included.
Fichier principal
Vignette du fichier
Manuscript.pdf (135.54 Ko) Télécharger le fichier
Vignette du fichier
FIGURE_1.tiff (651.78 Ko) Télécharger le fichier
Vignette du fichier
FIGURE_2.tiff (1021.16 Ko) Télécharger le fichier
Vignette du fichier
TABLE_1.pdf (86.34 Ko) Télécharger le fichier
Vignette du fichier
TABLE_2.pdf (68.46 Ko) Télécharger le fichier
Origin : Files produced by the author(s)
Format : Other
Format : Other
Origin : Files produced by the author(s)
Origin : Files produced by the author(s)
Loading...

Dates and versions

inserm-00785199 , version 1 (05-02-2013)

Identifiers

Cite

Narjes Guediche, Lucie Tosca, Marc Nouchy, Laure Lecerf, Dominique Cornet, et al.. Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions.: Multiple sSMC associated with recurrent abortions. European Journal of Medical Genetics, 2012, 55 (12), pp.737-42. ⟨10.1016/j.ejmg.2012.09.002⟩. ⟨inserm-00785199⟩
156 View
828 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More