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杂合子女性胎儿脆性X综合征的产前诊断及产后随访

Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow-up.

作者信息

Wilson M G, Marchese C A

出版信息

Prenat Diagn. 1984 Jan-Feb;4(1):61-6. doi: 10.1002/pd.1970040109.

DOI:10.1002/pd.1970040109
PMID:6728827
Abstract

An apparently normal female infant was born after the prenatal diagnosis of fragile Xq27-28 present in about 4 per cent of amniocytes . The mildly retarded mother had been found in early pregnancy to be heterozygous for fragile X. The child, now 9 months old, showed about the same level of fragile X expression as her mother. Variations in the proportion of cells with fragile X appeared to be related to cell type and laboratory techniques. The infant's growth and development have been normal. Different techniques to induce or increase the expression of fragile X are discussed.

摘要

一名外表正常的女婴在产前诊断出约4%的羊水细胞存在脆性Xq27 - 28后出生。这位轻度智力发育迟缓的母亲在怀孕早期被发现为脆性X基因杂合子。这个孩子现在9个月大,其脆性X表达水平与她母亲大致相同。含有脆性X的细胞比例变化似乎与细胞类型和实验室技术有关。该婴儿的生长发育一直正常。文中讨论了诱导或增加脆性X表达的不同技术。

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Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow-up.杂合子女性胎儿脆性X综合征的产前诊断及产后随访
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[Prenatal diagnosis of a male fetal carrier of fragile X chromosome by the amniotic fluid cells].[通过羊水细胞对脆性X染色体男性胎儿携带者进行产前诊断]
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引用本文的文献

1
Fragile X syndrome: A review of clinical management.脆性X综合征:临床管理综述
Intractable Rare Dis Res. 2016 Aug;5(3):145-57. doi: 10.5582/irdr.2016.01048.
2
Improved technique for the expression of fragile-X in cultured amniotic fluid cells.
Hum Genet. 1985;69(3):218-23. doi: 10.1007/BF00293028.