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Further evidence for the location of the BPES gene at 3q2.

作者信息

de Die-Smulders C E, Engelen J J, Donk J M, Fryns J P

出版信息

J Med Genet. 1991 Oct;28(10):725. doi: 10.1136/jmg.28.10.725.

DOI:10.1136/jmg.28.10.725
PMID:1941972
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017067/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b85/1017067/1d557ec3e25e/jmedgene00036-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b85/1017067/1d557ec3e25e/jmedgene00036-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b85/1017067/1d557ec3e25e/jmedgene00036-0079-a.jpg

相似文献

1
Further evidence for the location of the BPES gene at 3q2.有关小眼症相关基因定位于3q2的进一步证据。
J Med Genet. 1991 Oct;28(10):725. doi: 10.1136/jmg.28.10.725.
2
Another example favouring the location of BPES at 3q2.另一个支持BPES定位在3q2的例子。
J Med Genet. 1993 Jan;30(1):86. doi: 10.1136/jmg.30.1.86.
3
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.
Clin Genet. 1993 Sep;44(3):149-51. doi: 10.1111/j.1399-0004.1993.tb03867.x.
4
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.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
Am J Med Genet. 1993 Dec 1;47(8):1147-50. doi: 10.1002/ajmg.1320470802.
5
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].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。
Am J Med Genet. 1994 Jul 1;51(3):258-9. doi: 10.1002/ajmg.1320510317.
6
Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
J Pediatr Ophthalmol Strabismus. 1998 Sep-Oct;35(5):271-6. doi: 10.3928/0191-3913-19980901-06.
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Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation.
Clin Dysmorphol. 1996 Jul;5(3):259-61.
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Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
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The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?同一患者中睑裂狭小、上睑下垂、内眦赘皮综合征（BPES）与Langer型中肢侏儒症的并发。Langer型中肢侏儒症定位于3q22.3-q23的证据？
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Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).一名患有染色体易位t(2;3)(q33;q23)的女孩的睑裂狭小-上睑下垂-内眦赘皮综合征
Ophthalmic Genet. 2008 Mar;29(1):37-40. doi: 10.1080/13816810701867615.

引用本文的文献

1
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.
2
Interstitial deletion of band 3q25.
J Med Genet. 1997 May;34(5):430-2. doi: 10.1136/jmg.34.5.430.
3
Another example favouring the location of BPES at 3q2.另一个支持BPES定位在3q2的例子。
J Med Genet. 1993 Jan;30(1):86. doi: 10.1136/jmg.30.1.86.

本文引用的文献

1
Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.3号染色体长臂间质性缺失：病例报告、综述及表型定义
Am J Med Genet. 1987 Aug;27(4):781-6. doi: 10.1002/ajmg.1320270406.
2
Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.睑裂狭小症合并卵巢功能衰竭：一种可能的相邻基因综合征候选病症。
J Med Genet. 1989 Jul;26(7):434-8. doi: 10.1136/jmg.26.7.434.
4
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.孟德尔细胞遗传学。与孟德尔疾病相关的染色体重排。
J Med Genet. 1993 Sep;30(9):713-27. doi: 10.1136/jmg.30.9.713.
5
Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
J Med Genet. 1994 Aug;31(8):647-8. doi: 10.1136/jmg.31.8.647.
6
Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.睑裂狭小-智力发育迟缓综合征与3号染色体短臂末端缺失
J Med Genet. 1995 Mar;32(3):245-6. doi: 10.1136/jmg.32.3.245-a.
7
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.
Hum Genet. 1995 Aug;96(2):213-5. doi: 10.1007/BF00207381.