Lin H J, Ndiforchu F, Patell S
Department of Pediatrics, Harbor-UCLA Medical Center, Torrance 90502.
Am J Med Genet. 1993 Mar 15;45(6):761-3. doi: 10.1002/ajmg.1320450619.
Cloacal exstrophy, unilateral renal agenesis, and Müllerian anomalies occurred in a liveborn infant with a 47,XXX chromosome constitution. The patient extends the range of genitourinary anomalies reported in triple-X patients. Screening asymptomatic patients for urinary tract abnormalities may be useful in searching for silent malformations potentially associated with this karyotype.
一名染色体组成为47,XXX的活产婴儿出现泄殖腔外翻、单侧肾缺如和苗勒氏管异常。该患者扩展了XXX综合征患者中所报道的泌尿生殖系统异常的范围。对无症状患者进行泌尿系统异常筛查，可能有助于发现与这种核型潜在相关的隐匿畸形。
