Genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the male carriers in the family

Author:

Chen Chih-Ping,Lin Shuan-Pei,Wu Fang-Tzu,Pan Yen-Ting,Wu Peih-Shan,Wang Wayseen

Funder

National Science and Technology Council

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology

Reference14 articles.

1. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations;Wang;Behav Brain Funct,2008

2. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals;Koenig;Cell,1987

3. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies;Forrest;Genomics,1988

4. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications;Den Dunnen;Am J Hum Genet,1989

5. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype-genotype correlation;Hu;Am J Hum Genet,1990

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