Lucie Pierron1, Alexandra Irrmann1, Aliénor de Chalus1, Adrien Bloch1, Solveig Heide1, Eli Rogers1, Nathalie Lédée2, Laura Prat-Ellenberg2, Aurélie Coussement3,4, Jean-Michel Dupont3,4, Nino Guy Cassuto5, Jean-Pierre Siffroi1, Alexandre Rouen6. 1. Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Unité INSERM 933, 26 avenue du Dr Arnold Netter, 75012, Paris, France. 2. Service d'Assistance Médicale à la Procréation, Maternité des Bluets, 4 rue Lasson, 75012, Paris, France. 3. Service de Cytogénétique, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014, Paris, France. 4. Sorbonne Paris Cité, Faculté de Médecine, Université Paris Descartes, Paris, France. 5. Laboratoire Drouot, 21 rue Drouot, 75009, Paris, France. 6. Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Unité INSERM 933, 26 avenue du Dr Arnold Netter, 75012, Paris, France. alexandrerouen@gmail.com.
Abstract
BACKGROUND: The prevalence of chromosomal translocations is 1/500 in the general population. While in the vast majority of cases, carriers have a normal phenotype; they can present with difficulty conceiving due to the presence of a proportion of unbalanced gametes as a consequence of abnormal chromosomal segregation during meiosis. Since complex translocations involve three or more chromosomes, meiotic segregation leads to a greater number of possible combinations which effectively complicate both their study and therapeutic care. CASE PRESENTATION: We report on the case of a male carrier of a complex homogeneous double Robertsonian translocation: 44, XY, der(13;14)(q10;q10),der(21;22)(q10;q10). We studied his meiotic segregation by FISH on spermatozoa from the initial sample, as well as following discontinuous gradient centrifugation and after incubation in an hypo-osmotic solution. CONCLUSION: We report a method to study in a simple single-step manner the meiotic segregation of double Robertsonian translocations in spermatozoa. Further, our results suggest that reproductive prognosis of affected individuals may be markedly improved by HOST-based sperm selection (HBSS).
BACKGROUND: The prevalence of chromosomal translocations is 1/500 in the general population. While in the vast majority of cases, carriers have a normal phenotype; they can present with difficulty conceiving due to the presence of a proportion of unbalanced gametes as a consequence of abnormal chromosomal segregation during meiosis. Since complex translocations involve three or more chromosomes, meiotic segregation leads to a greater number of possible combinations which effectively complicate both their study and therapeutic care. CASE PRESENTATION: We report on the case of a male carrier of a complex homogeneous double Robertsonian translocation: 44, XY, der(13;14)(q10;q10),der(21;22)(q10;q10). We studied his meiotic segregation by FISH on spermatozoa from the initial sample, as well as following discontinuous gradient centrifugation and after incubation in an hypo-osmotic solution. CONCLUSION: We report a method to study in a simple single-step manner the meiotic segregation of double Robertsonian translocations in spermatozoa. Further, our results suggest that reproductive prognosis of affected individuals may be markedly improved by HOST-based sperm selection (HBSS).
Authors: K Moradkhani; J Puechberty; S Bhatt; J Lespinasse; P Vago; G Lefort; P Sarda; S Hamamah; F Pellestor Journal: Hum Reprod Date: 2006-08-17 Impact factor: 6.918
Authors: Maria S Juchniuk de Vozzi; Silvio A Santos; Ciro S Pereira; Juliana F Cuzzi; Lucimar Af Laureano; José G Franco; Lucia Martelli Journal: Mol Cytogenet Date: 2009-12-01 Impact factor: 2.009