ABSTRACT
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.
Subject(s)
Chromosome Aberrations , Comparative Genomic Hybridization/methods , Genetic Markers/genetics , Infertility, Female/genetics , Infertility, Male/genetics , Adult , Cytogenetics , Female , Gene Deletion , Humans , In Situ Hybridization, Fluorescence/methods , Male , Polycystic Ovary Syndrome/genetics , Polymerase Chain Reaction/methods , Spermatozoa/metabolismABSTRACT
A technique of coronary surgical angioplasty is described. At the level of the stenosis the arteriotomy of the coronary artery is closed with the internal thoracic artery giving an enlargement patch effect. The major surface of the atherome plaque is excluded from the lumen of the anastomosis and put outside the suture line. The origins of the collateral arteries are kept in the vascular lumel. So the new remodeled coronary artery is formed with a small gutter of native coronary artery and the whole surface of the internal thoracic artery wall. In some cases it is useful to associate a limited endarterectomy to the angioplasty. Sixty-six surgical angioplasties have been done in extensive coronary disease. Operative mortality was 5.4% and myocardial infarction 5.4%.
Subject(s)
Angioplasty/methods , Calcinosis/complications , Coronary Artery Disease/surgery , Coronary Disease/complications , Internal Mammary-Coronary Artery Anastomosis/methods , Adult , Aged , Calcinosis/surgery , Coronary Disease/surgery , Endarterectomy , Female , Humans , Male , Middle AgedABSTRACT
A technique of coronary surgical angioplasty is described. The long arteriotomy of the coronary artery over the stenosis is closed with the Internal Thoracic Artery (ITA) giving an enlargement patch effect. The majority of the atheromatous plaque is excluded from the lumen of the anastomosis and placed outside the suture line. The origin of the collateral arteries is preserved in the vascular lumen. The remodeled coronary artery is composed of a small gutter of native coronary artery and the whole surface of the ITA wall. In some cases, it is useful to associate a limited endarterectomy with the angioplasty. 66 surgical angioplasties have been performed in extensive coronary disease. Operative mortality was 5.4% with a myocardial infarction rate of 5.4%.
