Williams T M, McConnell T S, Martinez F, Smith A C, Sujansky E
Hum Pathol. 1984 Nov;15(11):1080-4. doi: 10.1016/s0046-8177(84)80252-x.
Clinical records, autopsy reports, and microscopic slides from 11 infants with the recombinant 8 syndrome, an inherited abnormality of chromosome 8 affecting Hispanics from New Mexico and Colorado, were evaluated. A prevalence of cardiac and genitourinary anomalies was found, while few central nervous system abnormalities were observed. Dysmorphic features associated with recombinant 8 syndrome are presented, with descriptions of the inheritance pattern and recurrence risk. Because recombinant 8 syndrome is a chromosomal disorder that will appear more and more frequently as kindreds enlarge, pathologists must be alert to its diagnostic characteristics and genetic implications.
对11例患有重组8号染色体综合征的婴儿的临床记录、尸检报告和显微切片进行了评估，该综合征是一种影响来自新墨西哥州和科罗拉多州的西班牙裔人群的8号染色体遗传性异常疾病。发现心脏和泌尿生殖系统异常的患病率较高，而中枢神经系统异常较少见。文中介绍了与重组8号染色体综合征相关的畸形特征，并描述了其遗传模式和复发风险。由于重组8号染色体综合征是一种染色体疾病，随着家族规模的扩大，其出现频率会越来越高，病理学家必须警惕其诊断特征和遗传意义。
