一名核型明显为非嵌合型45,X的女性分娩出一名核型为46,X,der(X)的活产女婴。

A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female.

作者信息

Palka G, Calabrese G, Stuppia L, Guanciali Franchi P, Morizio E, Peila R, Antonucci A

机构信息

Istituti di Biologia e Genetica, Umana Universitá di Chieti, Italy.

出版信息

Clin Genet. 1994 Feb;45(2):93-6. doi: 10.1111/j.1399-0004.1994.tb04001.x.

DOI:10.1111/j.1399-0004.1994.tb04001.x

PMID:8004805

Abstract

A liveborn female with a phenotype suggestive of Down syndrome is reported. Cytogenetic lymphocyte analysis showed a 46,X der(X) karyotype. Fluorescence in situ hybridization (FISH) with a biotinylated probe specific for chromosome 21 showed no signal on the der(X). This marker was homogeneously painted using a specific probe for X chromosome. In addition, FISH analysis detected telomeres on the rearranged X. Therefore, the proband's karyotype was reevaluated as 46,X,del(X) (pter-->p22.2::p11.3-->qter). Cytogenetic analysis of 150 lymphocytes in the mother disclosed a homogeneous 45,X karyotype. FISH analysis of interphase nuclei using the X chromosome painting probe showed two domains of different sizes in 0.8% of cells. This led us to study further metaphases in the mother. In one out of 450 metaphases scored, after FISH with the X chromosome painting probe, the del(X) was observed, confirming that the rearranged X chromosome found in the newborn had segregated from a 45,X/46,X,del(X) mother.

摘要

报道了一名活产女婴，其表型提示唐氏综合征。细胞遗传学淋巴细胞分析显示核型为46,X,der(X)。用针对21号染色体的生物素化探针进行荧光原位杂交（FISH），在der(X)上未显示信号。使用针对X染色体的特异性探针将该标记均匀涂染。此外，FISH分析在重排的X染色体上检测到端粒。因此，先证者的核型重新评估为46,X,del(X)（pter→p22.2::p11.3→qter）。对母亲的150个淋巴细胞进行细胞遗传学分析，发现其核型为均一的45,X。使用X染色体涂染探针进行间期核FISH分析，在0.8%的细胞中显示出两个大小不同的区域。这促使我们进一步研究母亲的中期染色体。在计数的450个中期染色体中，用X染色体涂染探针进行FISH后，在其中一个中观察到del(X)，证实新生儿中发现的重排X染色体来自45,X/46,X,del(X)的母亲。