title: Analysis of sex chromosomes in preimplantation genetic diagnosis for X-chromosome-linked disorders.
abstract: Preimplantation genetic diagnosis (PGD) is diagnostic tool to avoid inheritance of genetic disease by transferring unaffected embryos. Recently, PCR and FISH have been mainly applied to the diagnosis of single gene disorders and chromosomal abnormalities, respectively. Since with PGD, only a few cells are available for genetic tests, both gene and chromosomes analysis have to be obtained from the same, limited material. Cell recycling makes it possible to obtain the information on genes as well as chromosomes from the same cells. Therefore cell recycling is an acceptable strategy where in PGD targets large proportions of embryos severe chromosomal abnormalities. The responsible genes of the X-linked disorder and numerical abnormalities of sex chromosomes should be analyzed simultaneously. Gender information is definitely useful because only male affected embryos should be avoided for transfer.
authors.affiliation: 1st Department of Obstetrics and Gynecology, School of Medicine, Toho University, Tokyo, Japan. harumi@med.toho-u.ac.jp
authors.forename: Harumi
authors.initials: H
authors.lastname: Kubo
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Sasabe
authors.forename: Takayo
authors.initials: T
authors.lastname: Nishimura
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000517:prevention & control*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis