Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters
Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters
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DOI：
10.1002/ajmg.1295
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发表时间：
2001-06-01
期刊：
影响因子：
--
通讯作者：
Yong, SL
中科院分区：
文献类型：
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作者：
Boyle, J;Sangha, K;Yong, SL
18 p四体综合征在文献中已有很好的记载。这通常是由于额外的等染色体18 p，这已经出现在母体减数分裂II。本文报告了两个同母异父姐妹篇的临床和分子生物学研究结果，其中一个同母异父姐妹的等染色体为18 p，推测其等染色体在外祖母减数分裂时出现，而在JJ和AT的母亲中则经历了有丝分裂和减数分裂重组。异常细胞系可能仅限于母亲的性腺，因为通过对她的血液或成纤维细胞进行细胞遗传学分析仅检测到正常的46，XX细胞，并且体格检查仅显示正常结果。因此，等染色体虽然在受精时存在，但必须从大多数胚胎前体细胞中丢失。这种情况提出了关于复发风险的重要遗传咨询问题。(C)2001 Wiley-Liss，Inc.
The syndrome of tetrasomy 18p has been well documented in the literature. This is typically a result of a supernumerary isochromosome 18p, that has arisen during maternal meiosis II. This report presents clinical and molecular findings in two maternal half sisters with an isochromosome 18p, The isochromosome is inferred to have arisen during meiosis in the maternal grandmother and to have undergone mitotic and meiotic recombination in the mother of JJ and AT. The abnormal cell line may be restricted to the gonad in the mother as only normal 46,XX cells were detected by cytogenetic analysis of her blood or fibroblasts and physical examination revealed only normal findings, Thus, the isochromosome, although present at fertilization, must have been lost from the majority of embryonic precursor cells, This case raises important genetic counseling issues concerning recurrence risks. (C) 2001 Wiley-Liss, Inc.