一名患有智力障碍、弯指畸形、轻微面部异常但无生长发育迟缓的女性存在1q25.2 - q31.3缺失。
1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.
作者信息
Hu Ping, Wang Yan, Meng Lu-Lu, Qin Ling, Ma Ding-Yuan, Yi Long, Xu Zheng-Feng
机构信息
State key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123 Tianfei Street, Nanjing 210029, China.
Department of Pathology, Nanjing University Medical School, Nanjing 210093, PR China.
出版信息
Mol Cytogenet. 2013 Aug 6;6(1):30. doi: 10.1186/1755-8166-6-30.
The reports of 1q25-32 deletion cases are rare. We reported here an 11-year-old Chinese Han female with an interstitial 1q25 deletion displaying mental retardation, clinodactyly of the 5th finger and minor facial anomalies. Notably, the patient did not present growth retardation which is quite common in patients with 1q25-32 deletion encompassing LHX4. The heterozygous deletion in this patient was characterized as 46,XX,del(1)(q25.2-q31.3) with a length of 20.5 Mb according to SNP-array test results. STRP (Short Tandem Repeat Polymorphism) analysis of the family trio indicated the genomic abnormality was de novo with paternal origin. After a genotype-phenotype analysis, we proposed here the loss of a 3.1 Mb critical region including 24 genes within 1q25.2 (chr1:174.5-177.6 Mb, build 36) may account for the mental retardation in patients with 1q25-32 deletion.
1q25 - 32缺失病例的报道较为罕见。我们在此报告了一名11岁的中国汉族女性，其存在1q25间质缺失，表现为智力发育迟缓、小指侧弯和轻微面部异常。值得注意的是，该患者未出现生长发育迟缓，而这在包含LHX4的1q25 - 32缺失患者中较为常见。根据单核苷酸多态性阵列（SNP - array）检测结果，该患者的杂合缺失特征为46,XX,del(1)(q25.2 - q31.3)，长度为20.5兆碱基对（Mb）。对三联体家庭进行短串联重复多态性（STRP）分析表明，该基因组异常为新发，源自父系。经过基因型 - 表型分析，我们在此提出，1q25.2（chr1:174.5 - 177.6 Mb，构建版本36）内一个包含24个基因的3.1兆碱基对关键区域的缺失可能是1q25 - 32缺失患者智力发育迟缓的原因。
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