Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype.
作者： Wai-tai Ko , Wai-fan Lam , Fai-man Lo , Wing-kwong Chan , Tak-sum Lam
DOI: 10.1002/AJMG.A.20149
关键词: Genetics 、 Congenital disease 、 Cytogenetics 、 Chromosome 3 、 Long arm 、 Phenotype 、 Chromosomal Deletion 、 Blepharophimosis 、 Biology 、 Karyotype
摘要: Interstitial deletions of the long arm chromosome 3 are uncommon. Most cases related to blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which is mapped 3q23. We report on a case with de novo chromosomal deletion 3q23 and 3q25. review literature reported 3q find that condition our patient not typical BPES. Rather, she shares similarity Wisconsin syndrome, first discovered in 1976.
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