1. No variant was found in EXT2 gene of this proband.
先证者EXT2基因没有发现变异。
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2. Methods: Family - based nonparametric genome - wide linkage analysis was performed in by either an HLHS or BAV proband .
方法：在有左室发育不全和二叶式主动脉瓣先证者的家系中进行非参数基因组连锁分析。
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3. Methods: Family - based nonparametric genome - wide linkage analysis was performed in by either an HLHS or BAV proband .
方法：在有左室发育不全和二叶式主动脉瓣先证者的家系中进行非参数基因组连锁分析。
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4. The proband as well as his mother and uncle from family tree 2 may all suffer fromdvsaudia in both ears without any cause and with rapid exacerbation of the disease and dcafness at last,1 to 2 vears after birth.
家系2先证者与其母亲和舅舅均于出生后1～2年发生不明原因双耳听力障碍，迅速加重终至聋哑。
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5. The whole X chromosome of both the proband III-3 and his mother could be stained with X chromosome staining probe.
FISH示先证者及其母亲的X染色体全被涂染 ;
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6. The proband of pedigree D has high expression of fragile X chromosome(17%),his sister also has expression of fragile X chromosome(5%). By further detection with molecular genetic test,the proband is a full mutation patient of fragile X syndrome,and his sister is a mosaic patient.
