{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:13:30Z","timestamp":1778634810465,"version":"3.51.4"},"reference-count":24,"publisher":"Baishideng Publishing Group Inc.","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["World J Clin Pediatr"],"abstract":"<jats:p>BACKGROUND<\/jats:p>\n                  <jats:p>Dystrophinopathies are X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (DMD ). Down syndrome (DS) and Turner syndrome (TS) are well-characterized chromosomal conditions; however, their co-occurrence with monogenic disorders such as Duchenne muscular dystrophy (DMD) is rare and presents unique diagnostic and management challenges.<\/jats:p>\n                  <jats:p>CASE SUMMARY<\/jats:p>\n                  <jats:p>We report two rare cases of DMD coexisting with chromosomal abnormalities, both followed at Siriraj Hospital. The first case involved a 6-year-old boy with DS who presented with incidentally detected elevated serum transaminase levels, calf pseudohypertrophy, and gait difficulty; gene panel testing identified a hemizygous c.3917dup (p.Asp1307Argfs*4) variant in DMD . The second case involved a 6-year-old girl with proximal muscle weakness and calf pseudohypertrophy; genetic studies revealed a heterozygous delins variant in the DMD  (p.Ala3041Serfs*69), skewed X-chromosome inactivation, and mosaic TS [45,X(29%)\/46,XX].<\/jats:p>\n                  <jats:p>CONCLUSION<\/jats:p>\n                  <jats:p>The coexisting of DMD with DS or TS produces overlapping phenotypes that can complicate diagnosis; careful genetic evaluation and multidisciplinary management are therefore essential.<\/jats:p>","DOI":"10.5409\/wjcp.v15.i2.116726","type":"journal-article","created":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:27:12Z","timestamp":1778632032000},"source":"Crossref","is-referenced-by-count":0,"title":["Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports"],"prefix":"10.5409","volume":"15","author":[{"given":"Peerada","family":"Pongsakornkullachart","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mongkol","family":"Chanvanichtrakool","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhachdanai","family":"Dhachpramuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theeraphong","family":"Pho-Iam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nattha","family":"Yongwattana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pimchanok","family":"Kulsirichawaroj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jantima","family":"Tanboon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oranee","family":"Sanmaneechai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2060","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-021-00248-3"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-73"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36728"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2019.9982"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25618"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.15"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2017.01056"},{"key":"B8","doi-asserted-by":"crossref","unstructured":"Moser H. [Trisomy 21 in a boy with progressive muscular dystrophy (Duchenne)]. Z Kinderheilkd 1971; 318-325","DOI":"10.1007\/BF00438975"},{"key":"B9","unstructured":"Sakai K, Kojima S, Matsumura T, Takagi A, Arahata K. [A case of Down syndrome complicated with Becker muscular dystrophy]. Rinsho Shinkeigaku 1993; 1201-1203"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000005567"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.04.1228"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2.1.38"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250207"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1007\/BF01876881"},{"key":"B15","unstructured":"Kinoshita M, Ikeda K, Yoshimura M, Saku A, Watanabe K. [Duchenne muscular dystrophy carrier presenting with mosaic X chromosome constitution and muscular symptoms--with analysis of the barr bodies in the muscle]. Rinsho Shinkeigaku 1990; 643-646"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055129"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.222.149"},{"key":"B18","unstructured":"Kaczorowska E, Zimowski J, Cicho\u0144-Kotek M, Mrozi\u0144ska A, Purzycka J, Wierzba J, Limon J, Lipska-Zi\u0119tkiewicz BS. Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician. Dev Period Med 2016; 273-278"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003-9406.2019.02.014"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-019-03010-6"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1097\/CM9.0000000000001159"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.18203\/2349-3291.ijcp20212064"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282093"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0643-7"}],"container-title":["World Journal of Clinical Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.wjgnet.com\/2219-2808\/full\/v15\/i2\/116726.htm","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.wjgnet.com\/2219-2808\/full\/v15\/i2\/116726.htm","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:28:05Z","timestamp":1778632085000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.wjgnet.com\/2219-2808\/full\/v15\/i2\/116726.htm"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,9]]},"references-count":24,"journal-issue":{"issue":"2"},"alternative-id":["116726"],"URL":"https:\/\/doi.org\/10.5409\/wjcp.v15.i2.116726","relation":{},"ISSN":["2219-2808"],"issn-type":[{"value":"2219-2808","type":"print"}],"subject":[],"published":{"date-parts":[[2026,6,9]]}}}