与3q22带间质性缺失相关的睑裂狭小、上睑下垂和内眦赘皮综合征（BPES）：综述及基因定位到3q22.3带和3q23带的交界区
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.
作者信息
Jewett T, Rao P N, Weaver R G, Stewart W, Thomas I T, Pettenati M J
机构信息
Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University Medical Center, Winston-Salem, North Carolina 27157.
出版信息
Am J Med Genet. 1993 Dec 1;47(8):1147-50. doi: 10.1002/ajmg.1320470802.
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23.
我们报告了一名患有睑裂狭小、上睑下垂和内眦赘皮（BPES）、发育迟缓以及3号染色体q22带间缺失的儿童。对与眼部异常，特别是睑裂狭小和上睑下垂相关的3号染色体q异常的综述强烈表明，3q22.3和3q23带的交界处存在一个眼睑发育位点。
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