“Cri-du-chat”综合征患者的母亲与旁中心反转染色体5q

Sylvie Bourthoumieu , Françoise Esclaire , Faraj Terro , Marie Claire Baclet , Antoine Bedu , Brigitte Dufetelle , Brigitte Gilbert , Dominique Barthe , Catherine Yardin
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引用次数: 0

摘要

我们报告的情况下,女婴在出生时表现出张力低下,生长迟缓和呼吸窘迫。外周血染色体研究显示46,XX,del(5)(p14pter)核型。亲本染色体研究显示,母亲携带明显平衡的5号染色体长臂顺中心倒置,核型为46,xx,inv(5)(q12q32),而父亲核型正常。通过荧光原位杂交(FISH)证实了母体的异常,在女儿的中期不存在。对孕妇及其父母的微卫星分析使我们能够得出这样的结论:正如通常所描述的那样,缺失的5号染色体起源于父系。因此,正如预期的那样,母亲5q染色体旁中心倒位与女儿出现的“cri-du-chat综合征”无关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
“Cri-du-chat” syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q

We report the case of a female child presented at birth with hypotonia, growth retardation and respiratory distress. Chromosome study from peripheral blood showed a 46,XX,del(5)(p14pter) karyotype. Parental chromosome studies revealed that the mother carried an apparently balanced paracentric inversion of long arms of one chromosome 5, giving the karyotype 46,XX,inv(5)(q12q32), whereas paternal karyotype was normal. The maternal abnormality was confirmed by fluorescence in situ hybridization (FISH) and was not present in the daughter’s metaphases. Microsatellite analysis in the proposita and her parents permitted us to conclude that the deleted chromosome 5 was paternal in origin, as usually described. Therefore, as might have been expected, maternal paracentric inversion of chromosome 5q and “cri-du-chat syndrome” presented by the daughter were not related.

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