【bbin宝盈基因检测】短肋胸椎发育不良21不伴多指畸形基因检测需要查染色体突变吗？

短肋胸椎发育不良21不伴多指畸形基因检测需要查染色体突变吗？

短肋胸椎发育不良21不伴多指畸形基因检测需要查染色体突变。

短肋胸椎发育不良21 (RCDP21) 是一种罕见的常染色体隐性遗传病，其特征是胸廓畸形、肋骨短小、脊柱畸形、四肢短小和智力障碍。该病的致病基因为 RMRP 基因，该基因位于染色体 1p36.23。

RCDP21 的诊断主要依靠临床表现和基因检测。基因检测可以确诊 RCDP21，并排除其他类似疾病。染色体突变检测可以帮助确定 RCDP21 的遗传模式，并预测患者后代患病风险。

对于 RCDP21 患者，染色体突变检测的必要性取决于以下因素：

患者的临床表现：如果患者的临床表现符合 RCDP21 的诊断标准，则染色体突变检测的必要性较低。

患者的家族史：如果患者的家族中有 RCDP21 病史，则染色体突变检测的必要性较高。

患者的生育计划：如果患者计划生育，则染色体突变检测可以帮助预测后代患病风险。

如果患者的临床表现符合 RCDP21 的诊断标准，且家族中没有 RCDP21 病史，则可以先进行 RMRP 基因检测。如果基因检测结果为阳性，则可以确诊 RCDP21，无需进行染色体突变检测。

如果患者的临床表现符合 RCDP21 的诊断标准，但基因检测结果为阴性，则需要考虑进行染色体突变检测。染色体突变检测可以帮助确定 RCDP21 的遗传模式，并预测患者后代患病风险。

总之，对于短肋胸椎发育不良21不伴多指畸形患者，是否需要进行染色体突变检测需要根据患者的具体情况进行判断。如果患者的临床表现符合 RCDP21 的诊断标准，且家族中没有 RCDP21 病史，则可以先进行 RMRP 基因检测。如果基因检测结果为阳性，则可以确诊 RCDP21，无需进行染色体突变检测。如果基因检测结果为阴性，则需要考虑进行染色体突变检测。

导致短肋胸椎发育不良21不伴多指畸形(Short-Rib Thoracic Dysplasia 21 Without Polydactyly)发生的突变会在哪些基因上？

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