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

Objective: We present 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. Case report: A 35-year-old, gravida 2, para 0, woman underwent amniocen...

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主要な著者: Chih-Ping Chen (著者), Shuan-Pei Lin (著者), Fang-Tzu Wu (著者), Yen-Ting Pan (著者), Peih-Shan Wu (著者), Wayseen Wang (著者)
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出版事項: Elsevier, 2023-09-01T00:00:00Z.
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