Search results for "chromosomal abnormalities"
showing 3 items of 3 documents
The why, the how and the when of PGS 2.0
2016
STUDY QUESTION: We wanted to probe the opinions and current practices on preimplantation genetic screening (PGS), and more specifically on PGS in its newest form: PGS 2.0? STUDY FINDING: Consensus is lacking on which patient groups, if any at all, can benefit from PGS 2.0 and, a fortiori, whether all IVF patients should be offered PGS. WHAT IS KNOWN ALREADY: It is clear from all experts that PGS 2.0 can be defined as biopsy at the blastocyst stage followed by comprehensive chromosome screening and possibly combined with vitrification. Most agree that mosaicism is less of an issue at the blastocyst stage than at the cleavage stage but whether mosaicism is no issue at all at the blastocyst st…
High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa
2006
Rodrigo Vivo, Lorena, lorovi@alumni.uv.es ; Prados Dodd, Nicolas, Nicolas.Prados@uv.es ; Gil Salom, Manuel Luis, Manuel.Gil-Salom@uv.es ; Remohi Gimenez, Jose Alejandro, J.Alejandro.Remohi@uv.es
Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental
2015
Resume La microdeletion 22q11.2 est le syndrome microdeletionnel le plus frequent de la population generale. Le phenotype associe des anomalies de l’appareil pharynge embryonnaire a un phenotype neurocomportemental. La presentation clinique du syndrome est extremement variable d’un individu a l’autre, quelle que soit la taille de la deletion, et plus de 180 manifestations ont ete decrites, aucune n’etant pathognomonique. Les symptomes psychiatriques, particulierement de nature psychotique, sont frequents dans la microdeletion 22q11.2 et de nombreux psychiatres sont amenes a rencontrer ces patients. La prise en charge doit tenir compte des particularites du syndrome. L’evaluation de la neuro…