Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan.
Pediatr Neonatol. 2013 Apr;54(2):132-6. doi: 10.1016/j.pedneo.2012.10.010. Epub 2012 Dec 8.
Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25-10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.
远端 10q 缺失综合征是一种罕见的染色体疾病。涉及 10q25-10q26.1 带的片段缺失极为罕见，仅有少数病例报道。其特征性表现为面部畸形、出生后生长迟缓、发育迟缓、先天性心脏病、泌尿生殖系统异常、数字异常和斜视。我们首次报道了一例患有新发 10q 片段缺失 del（10）（q26.1q26.3）和白内障的患者。
