Plateforme de Genomique IMRB 955

Créteil, France

Plateforme de Genomique IMRB 955

Créteil, France

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Guediche N.,University Paris - Sud | Guediche N.,French Institute of Health and Medical Research | Tosca L.,University Paris - Sud | Tosca L.,French Institute of Health and Medical Research | And 8 more authors.
European Journal of Medical Genetics | Year: 2012

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 20p11.21 (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. © 2012 Elsevier Masson SAS.


Guediche N.,University Paris - Sud | Guediche N.,French Institute of Health and Medical Research | Tosca L.,University Paris - Sud | Tosca L.,French Institute of Health and Medical Research | And 16 more authors.
Reproductive BioMedicine Online | Year: 2012

Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by conventional banding cytogenetics. This study describes four patients with sSMC in relation with infertility. Patient 1 had primary infertility. His brother, fertile, carried the same sSMC (patient 2). Patient 3 presented polycystic ovary syndrome and patient 4 primary ovarian insufficiency. Cytogenetic studies, array comparative genomic hybridization (CGH) and sperm analyses were compared with cases previously reported. sSMC corresponded to the 15q11.2 region (patients 1 and 2), the centromeric chromosome 15 region (patient 3) and the 21p11.2 region (patient 4). Array CGH showed 3.6-Mb gain for patients 1 and 2 and 0.266-Mb gain for patient 4. Sperm fluorescent in-situ hybridization analyses found ratios of 0.37 and 0.30 of sperm nuclei with sSMC(15) for patients 1 and 2, respectively (P < 0.001). An increase of sperm nuclei with disomy X, Y and 18 was noted for patient 1 compared with control and patient 2 (P < 0.001). Among the genes mapped in the unbalanced chromosomal regions, POTE B and BAGE are related to the testis and ovary, respectively. The implication of sSMC in infertility could be due to duplication, but also to mechanical effects perturbing meiosis. Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by conventional banding cytogenetics. Previous reports of sSMC in relation with infertility have not studied the size, chromosomal regions and genes involved. We describe a series of four patients with sSMC in relation with infertility. Patient 1 had primary infertility. His brother, fertile, carried the same sSMC (patient 2). Patient 3 presented polycystic ovarian syndrome and patient 4 suffered from primary ovarian insufficiency. Cytogenetic studies including array comparative genomic hybridization (CGH), phenotypic findings and sperm chromosomal content were compared to cases previously reported. sSMC corresponded to the 15q11.2 chromosomal region (patients 1 and 2), the centromeric chromosome 15 region (patient 3) and the 21p11.2 chromosomal region (patient 4). Array CGH showed a 3.6-Mb gain for patients 1 and 2, and a 0.266-Mb gain for patient 4. Patient 3 presented a sSMC(15) that did not contain euchromatin. Sperm FISH analyses found respectively ratios of 0.37 and 0.30 of sperm nuclei with sSMC(15) on total counted cells for patients 1 and 2 (P < 0.001). A significant increase in the proportions of sperm nuclei with disomy X, Y and 18 was noted for patient 1 compared with control donor and patient 2 (P < 0.001). Among the genes mapped in the unbalanced chromosomal regions for the sSMC studied, the POTE B and BAGE genes were related to testis and ovary, respectively. The implication of sSMC in infertility could be due to the duplication of these genes but also to mechanical effects of the sSMC perturbing meiosis. © 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.


Armanet N.,Hopitaux Universitaires Paris Sud | Armanet N.,University Paris - Sud | Metay C.,Plateforme de Genomique IMRB 955 | Brisset S.,Hopitaux Universitaires Paris Sud | And 13 more authors.
Molecular Cytogenetics | Year: 2015

Background: Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient. Results: The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6 Mb. The two deletions were inherited from the asymptomatic mother. Conclusions: Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed. © 2015 Armanet et al.; licensee BioMed Central.


PubMed | Plateforme de Genomique IMRB 955, Service de Nephrologie pediatrique, University Paris - Sud, University Paris Est Creteil and 2 more.
Type: | Journal: Molecular cytogenetics | Year: 2015

Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient.The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6Mb. The two deletions were inherited from the asymptomatic mother.Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed.

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