Ko Wai-tai, Lam Wai-fan, Lo Fai-man, Chan Wing-kwong, Lam Tak-sum
Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, China.
Am J Med Genet A. 2003 Jul 30;120A(3):413-7. doi: 10.1002/ajmg.a.20149.
Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on the reported cases of 3q deletion and find that the condition of our patient is not typical of the BPES. Rather, she shares similarity to a patient with Wisconsin syndrome, first discovered in 1976.
3号染色体长臂的间质性缺失并不常见。大多数病例与睑裂狭小-上睑下垂-内眦赘皮综合征（BPES）有关，该综合征定位于3q23。我们报告了一例3q23和3q25新发染色体缺失的病例。我们回顾了有关3q缺失报告病例的文献，发现我们患者的情况并非典型的BPES。相反，她与1976年首次发现的威斯康星综合征患者有相似之处。
