Jagadeesh Sujatha, Jabeen Gazala, Bhat Lathaa, Vasikarla Madhavi, Suresh Arvind, Seshadri Suresh, Lata S
Department of Genetics, A Unit of Mediscan Systems, 197, Dr Natesan Road, Mylapore, Chennai, India.
Indian J Pediatr. 2008 Jun;75(6):629-31. doi: 10.1007/s12098-008-0120-8. Epub 2008 Aug 31.
Triple X syndrome is a rare numerical chromosomal anomaly, occurring as a result of non dysjunction in meiosis I. Most cases have neurodevelopmental defects and functional problems. We report two cases diagnosed in our centre. The first was a fetus with cleft lip and palate, 47, XXX was identified by Fetal Blood Sampling. The second was a child with multisystem anomaly including cleft lip and palate, whose karyotype also revealed 47, XXX. Though isolated cases of associated abnormalities have been reported there have not been consistent phenotypic changes reported with this condition.
XXX综合征是一种罕见的染色体数目异常疾病，由减数分裂I期的不分离所致。大多数病例存在神经发育缺陷和功能问题。我们报告在本中心诊断的两例病例。第一例是一名患有唇腭裂的胎儿，通过胎儿血样采集确定为47，XXX。第二例是一名患有包括唇腭裂在内的多系统异常的儿童，其核型也显示为47，XXX。尽管有孤立的相关异常病例报道，但尚未有关于这种情况一致的表型变化的报道。
