9p亚端粒微小缺失是致病性突变还是正常遗传变异?

• 作 者: C. TECHAKITTIROJ K.C. KIM H. A
• 机 构: Human Genetics Program,Department of Pediatrics,北京大学医学遗传中心
• 出 处: 北京大学学报（医学版）
• 发表日期: 2004年期
• 关键词: 染色体缺失 原位杂交 荧光 畸形 突变 变异(遗传学) Chromosome deletion In situ hybridization fluorescen

We report an apparently benign familial 9p subtelomere deletion identified using chromosome-arm-specific subtelomere probes in a patient with multiple congenital anomalies. Our experience demonstrated that the discovery of a subtelomeric deletion and/or duplication does not always guarantee the identification of the etiology for the patient's phenotype and a positive finding with subtelomere probes should always be followed by parental study with the same probe in order to distinguish a disease causing alteration from a benign familial polymorphism.