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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.

DOI:10.1002/ajmg.1320470802
PMID:8291545
Abstract

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.

摘要

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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引用本文的文献

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The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.基因组学在先天性尿路缺陷诊断及检查中的新作用：3q13.31 - 22.1染色体上一种新型缺失综合征
Pediatr Nephrol. 2014 Feb;29(2):257-67. doi: 10.1007/s00467-013-2625-2. Epub 2013 Nov 30.
2
A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.一例与3q染色体新生三体相关的单侧睑裂狭小综合征和智力障碍的罕见病例。
J Med Genet. 1997 Sep;34(9):772-6. doi: 10.1136/jmg.34.9.772.
3
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.
睑裂狭小-上睑下垂综合征的连锁分析证实其基因定位于3q21-24。
J Med Genet. 1995 Oct;32(10):774-7. doi: 10.1136/jmg.32.10.774.
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Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.细胞遗传学研究结果表明，患有睑裂狭小、内眦赘皮和发育迟缓的患者存在异质性。
J Med Genet. 1995 Jan;32(1):19-24. doi: 10.1136/jmg.32.1.19.
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A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.
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