对于患有15q染色体综合征的儿童,诊断年龄

Anne C Wheeler1, Marie G Gantz2, Heidi Cope2

  • 1Genomics, Ethics, and Translational Research Program, RTI International, 3040 W. Cornwallis Rd, Research Triangle Park, NC, 27709, USA. acwheeler@rti.org.

概括

患有安吉尔曼综合征 (AS) 和重复15q综合征 (Dup15q) 的儿童在1.8岁左右被诊断出患有这种疾病,而普拉德-威利综合征 (PWS) 在1个月后被诊断出更早. 这些数据有助于减少15号染色体疾病的诊断延迟.

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