15号染色体末端6.9兆碱基的缺失，与一名患有先天性膈疝和心脏缺陷患者的结构异常X染色体相关。
Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.
作者信息
Jaillard Sylvie, Loget Philippe, Lucas Josette, Dubourg Christèle, Le Bouar Gwenaelle, Demurger Florence, Bertorello Isabelle, David Véronique, Poulain Patrice, Odent Sylvie, Belaud-Rotureau Marc-Antoine
机构信息
Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.
出版信息
Eur J Med Genet. 2011 Mar-Apr;54(2):186-8. doi: 10.1016/j.ejmg.2010.11.001. Epub 2010 Nov 27.
We report the case of a female patient exhibiting multiple congenital malformations including diaphragmatic hernia and heart defect. Cytogenetic studies (including karyotype, FISH and array-CGH) showed a de novo terminal deletion (6.9 Mb) on chromosome 15 in association with a recombinant X chromosome bearing a 9-Mb Xp duplication and a 46-Mb Xq deletion distal to XIST. The recombinant X chromosome was caused by a maternal inv(X)(p22.31q22.3). The X chromosome inactivation pattern was skewed in the patient suggesting a possible inactivation of the recombinant X chromosome. Considering these results, the phenotype was linked to the de novo terminal 15q deletion. These results strengthen the assumption that array-CGH should be applied to each fetus/newborn with multiple congenital malformations.
我们报告了一例患有多种先天性畸形（包括膈疝和心脏缺陷）的女性患者。细胞遗传学研究（包括核型分析、荧光原位杂交和比较基因组杂交芯片分析）显示，15号染色体存在一个新生的末端缺失（6.9 Mb），同时伴有一条重组X染色体，该染色体带有一个9 Mb的Xp重复和一个位于XIST远端的46 Mb的Xq缺失。该重组X染色体是由母亲的X染色体倒位inv(X)(p22.31q22.3)引起的。患者的X染色体失活模式偏向一侧，提示重组X染色体可能失活。考虑到这些结果，该表型与新生的15q末端缺失有关。这些结果强化了这样一种假设，即对于每一个患有多种先天性畸形的胎儿/新生儿都应进行比较基因组杂交芯片分析。
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