Tohoku J. Exp. Med., 2010, 222(2)

Duchenne Muscular Dystrophy in a Female Patient with a Karyotype of 46,X,i(X)(q10)

ZHANHUI OU,¹ SHAOYING LI,¹ QING LI,¹ XIAOLIN CHEN,¹ WEIQIANG LIU¹ and XIAOFANG SUN¹

¹Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical College, Duobao Road, Guangzhou, China

Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy caused by mutations in the dystrophin gene and it affects males predominantly. Here we report a 4-year-old girl with DMD from a healthy family, in which her parents and sister have no DMD genotype. A PCR-based method of multiple ligation-dependent probe amplification (MLPA) analysis showed the deletion of exons 46 and 47 in the dystrophin gene, which led to loss of dystrophin function. No obvious phenotype of Turner syndrome was observed in this patient and cytogenetic analysis revealed that her karyotype is 46,X,i(X)(q10). In conclusion, we describe the first female patient with DMD who carries a de novo mutation of the dystrophin gene in one chromosome and isochromosome Xq, i(Xq), in another chromosome.

keywords —— Duchenne Muscular Dystrophy; de novo mutation; isochromosome Xq; karyotype; Turner syndrome

© 2010 Tohoku University Medical Press

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Tohoku J. Exp. Med., 2010, 222, 149-153

Correspondence: Xiaofang Sun, Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical College, Duobao Road, Guangzhou, China.

e-mail: xiaofangsun@hotmail.com