{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T23:17:47Z","timestamp":1777591067755,"version":"3.51.4"},"reference-count":8,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Einstein (S\u00e3o Paulo)"],"abstract":"<jats:p>ABSTRACT Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.<\/jats:p>","DOI":"10.1590\/s1679-45082017rc3994","type":"journal-article","created":{"date-parts":[[2017,9,20]],"date-time":"2017-09-20T19:39:24Z","timestamp":1505936364000},"page":"489-491","source":"Crossref","is-referenced-by-count":5,"title":["Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy"],"prefix":"10.1590","volume":"15","author":[{"given":"Bianca","family":"Bianco","sequence":"first","affiliation":[{"name":"Faculdade de Medicina do ABC,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise Maria","family":"Christofolini","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina do ABC,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel Seixas","family":"Concei\u00e7\u00e3o","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina do ABC,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caio Parente","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina do ABC,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2017,9,21]]},"reference":[{"issue":"3","key":"ref1","doi-asserted-by":"crossref","first-page":"274","DOI":"10.3346\/jkms.2012.27.3.274","article-title":"Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne\/Becker muscular dystrophy in Korea","volume":"27","author":"Lee BL","year":"2012","journal-title":"J Korean Med Sci"},{"issue":"12","key":"ref2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: one gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni F","year":"2003","journal-title":"Lancet Neurol"},{"issue":"3","key":"ref3","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1525-1578(10)60560-0","article-title":"Experience and strategy for the molecular testing of Duchenne muscular dystrophy","volume":"7","author":"Prior TW","year":"2005","journal-title":"J Mol Diagn"},{"issue":"9","key":"ref4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0108038","article-title":"Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients","volume":"9","author":"Chen C","year":"2014","journal-title":"PLoS One"},{"issue":"4","key":"ref5","first-page":"682","article-title":"Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation","volume":"46","author":"Hu XY","year":"1990","journal-title":"Am J Hum Genet"},{"issue":"4","key":"ref6","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/(SICI)1096-8628(19960628)63:4<573::AID-AJMG11>3.0.CO;2-F","article-title":"Genetic counseling of isolated carriers of Duchenne muscular dystrophy","volume":"63","author":"Hoffman EP","year":"1996","journal-title":"Am J Med Genet"},{"issue":"2","key":"ref7","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.nmd.2008.10.011","article-title":"Dystrophin gene analysis in Hungarian Duchenne\/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives","volume":"19","author":"Pik\u00f3 H","year":"2009","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"ref8","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ejhg.2012.101","article-title":"An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy","volume":"21","author":"Helderman-van den Enden AT","year":"2013","journal-title":"Eur J Hum Genet"}],"container-title":["Einstein (S\u00e3o Paulo)"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/eins\/v15n4\/1679-4508-eins-S1679-45082017RC3994.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,5]],"date-time":"2018-03-05T21:05:04Z","timestamp":1520283904000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S1679-45082017000400489&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,21]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,12]]}},"alternative-id":["S1679-45082017000400489"],"URL":"https:\/\/doi.org\/10.1590\/s1679-45082017rc3994","relation":{},"ISSN":["2317-6385","1679-4508"],"issn-type":[{"value":"2317-6385","type":"electronic"},{"value":"1679-4508","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9,21]]}}}