Grimm T, Meng G, Liechti-Gallati S, Bettecken T, Müller CR, Müller B
J Med Genet 1994 Mar;31(3):183-6. doi: 10.1136/jmg.31.3.183. PMID: 8014964 Free PMC Article

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Diagnosis

A DMD case caused by X chromosome rearrangement.

Hu H, Yang XW, Cheng DH, Li XR, He WB, Hu X, Gao BD, Zhao XM, Zhang QJ, Du J, Liu JY, Lu GX, Ge L, Li W
Yi Chuan 2023 Jan 20;45(1):88-95. doi: 10.16288/j.yczz.22-179. PMID: 36927641

Chromosome Microarray Analysis Detection of a Single Exon Deletion of the Duchenne Muscular Dystrophy Gene in a Fetus: a Case Report.

Wang J, Zhang YS, Liu WR, Chen LJ
Clin Lab 2022 May 1;68(5) doi: 10.7754/Clin.Lab.2021.210750. PMID: 35536067

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.

Niida Y, Sato H, Ozaki M, Itoh M, Ikeno K, Takase E
Cytogenet Genome Res 2016;149(4):247-257. Epub 2016 Oct 22 doi: 10.1159/000450847. PMID: 27771696

Principles of genetic variations and molecular diseases: applications in hemophilia A.

Lannoy N, Hermans C
Crit Rev Oncol Hematol 2016 Aug;104:1-8. Epub 2016 Apr 21 doi: 10.1016/j.critrevonc.2016.04.005. PMID: 27296059

Carrier detection in Duchenne muscular dystrophy using molecular methods.

Sakthivel Murugan SM, Arthi C, Thilothammal N, Lakshmi BR
Indian J Med Res 2013 Jun;137(6):1102-10. PMID: 23852291 Free PMC Article

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Therapy

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

Ashton EJ, Yau SC, Deans ZC, Abbs SJ
Eur J Hum Genet 2008 Jan;16(1):53-61. Epub 2007 Aug 29 doi: 10.1038/sj.ejhg.5201916. PMID: 17726484

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Prognosis

Cytogenetic studies in amenorrhea.

Rajangam S, Nanjappa L
Saudi Med J 2007 Feb;28(2):187-92. PMID: 17268694

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

Grimm T, Meng G, Liechti-Gallati S, Bettecken T, Müller CR, Müller B
J Med Genet 1994 Mar;31(3):183-6. doi: 10.1136/jmg.31.3.183. PMID: 8014964 Free PMC Article

See all (2)

Clinical prediction guides

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Barrie ES, Li Y, Lamb-Thrush D, Hashimoto S, Matthews T, Mouhlas D, Pyatt R, Reshmi SC, Gastier-Foster JM, Pfau R, Astbury C
Eur J Med Genet 2018 Jul;61(7):416-420. Epub 2018 Mar 20 doi: 10.1016/j.ejmg.2018.02.008. PMID: 29572065

Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.

Li T, Zhang ZJ, Ma X, Lv X, Xiao H, Guo QN, Liu HY, Wang HD, Wu D, Lou GY, Wang X, Zhang CY, Liao SX
Medicine (Baltimore) 2017 Dec;96(50):e8814. doi: 10.1097/MD.0000000000008814. PMID: 29390271 Free PMC Article

Carrier detection in Duchenne muscular dystrophy using molecular methods.

Sakthivel Murugan SM, Arthi C, Thilothammal N, Lakshmi BR
Indian J Med Res 2013 Jun;137(6):1102-10. PMID: 23852291 Free PMC Article

Cytogenetic studies in amenorrhea.

Rajangam S, Nanjappa L
Saudi Med J 2007 Feb;28(2):187-92. PMID: 17268694

Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion.

Kokalj-Vokac N, Marcun-Varda N, Zagorac A, Erjavec-Skerget A, Zagradisnik B, Todorovic M, Gregoric A
Eur J Pediatr 2004 Nov;163(11):658-63. Epub 2004 Aug 12 doi: 10.1007/s00431-004-1519-5. PMID: 15309625

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