睑裂狭小、上睑下垂、内眦赘皮综合征，1例与新发平衡常染色体易位[46,XY,t(3;7)(q23;q32)]相关的新病例。
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].
作者信息
Boccone L, Meloni A, Falchi A M, Usai V, Cao A
机构信息
Istituto di Clinica e Biologia dell'Età Evolutiva, Università di Cagliari, Italy.
出版信息
Am J Med Genet. 1994 Jul 1;51(3):258-9. doi: 10.1002/ajmg.1320510317.
PMID:8074155
Abstract
This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region.
摘要
本文报道了另一例与相互易位[46,XY,t(3;7)(q23;q32)]相关的睑裂狭小、上睑下垂、内眦赘皮综合征（BPES），该易位涉及3q23带。此病例支持将BPES基因定位于3q23区域。
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