Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.

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.

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

[The nephrotic syndrome in kala-azar]. / Syndrome néphrotique au cours du kala-azar.

Glomerular nephropathy is unusually known in kala-azar. We present 3 cases and we report a review on the clinical, biological and immunohistological aspects of this glomerulonephritis. The immunologic mechanisms of this parasitic nephropathy and its reversibility after specific treatment are characteristic.

[Surgical incidence of hydatidosis in the Sahel and Central Tunisia]. / Incidence chirurgicale de l'hydatidose dans le Centre et le Sahel Tunisiens.

A retrospective hospital survey of patients having undergone surgery for hydatidosis was undertaken in order to evaluate hydatic endemicity in central Tunisia and the Sahel. The study made it possible to establish the following: an average prevalence of 22.8 cases per 100,000 inhabitants; a significant underregistration of the illness, only 51.5% of the cases being reported; certain high-risk rural areas are characterized by a prevalence exceeding 40 per 100,000 inhabitants; the disease is more frequent among women; surgical hydatidosis is not rare among the very young and the very old; among adults, the liver is the first organ affected, followed by the lungs; among children, it is the opposite. Hydatidosis thus represents a commonly-occurring disease that is frequently underestimated in official statistics. A preventive program must be conceived to control this scourge.