1型致死性骨发育不全（TD）患者染色体异常的诊断：首份描述细胞遗传学结果与TD之间重要关联的报告。
Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.
作者信息
Turgut Mehmet, Demirhan Osman, Tunc Erdal, Bucak Ibrahim Hakan, Canoz Perihan Yasemen, Temiz Fatih, Tumgor Gokhan
机构信息
Department of Pediatrics, Faculty of Medicine, Adıyaman University, Adiyaman, Turkey.
出版信息
Am J Case Rep. 2012;13:109-13. doi: 10.12659/AJCR.883026. Epub 2012 Jun 13.
BACKGROUND
Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported to be caused by mutations in the FGFR3 gene, but exactly how cytogenetic abnormalities might lead to TD is unclear.
CASE REPORT
We report a case of TD with different prenatal sonographic features compatible with the classification of type I. In the result of cytogenetic examination, we found de novo CAs in 28% of cells analyzed from the affected infant; 75% of the abnormalities were numerical, and of those, 25% were structural aberrations; 21% of cells revealed predominantly numerical aberrations. Monosomy 18, 21 and 22 was observed in 4% of cells, monosomy 20 in 2%, and monosomy 7, 8, 14, 17 and 19 in 1%. Structural changes were observed in 7% of cells.
CONCLUSIONS
It appears that these chromosomes may be preferentially involved in and important for TD development.
背景
致死性骨发育不良（TD）是最致命且最严重的发育不良类型。它具有独特特征，其中最重要的是管状骨短和肋骨短伴椎体扁平，这使得能够进行精确的放射学和产前超声诊断。据报道，其由FGFR3基因突变引起，但细胞遗传学异常究竟如何导致TD尚不清楚。
病例报告
我们报告一例具有与I型分类相符的不同产前超声特征的TD病例。在细胞遗传学检查结果中，我们在对患病婴儿分析的28%的细胞中发现了新发染色体异常（CAs）；75%的异常为数目异常，其中25%为结构畸变；21%的细胞主要显示数目畸变。在4%的细胞中观察到18、21和22号染色体单体，在2%的细胞中观察到20号染色体单体，在1%的细胞中观察到7、8、14、17和19号染色体单体。在7%的细胞中观察到结构变化。
结论
看来这些染色体可能优先参与TD的发生并对其发展至关重要。
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