Case Reports
doi: 10.1002/ajmg.1320400423.
Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23
Affiliations
- PMID: 1746616
- DOI: 10.1002/ajmg.1320400423
Item in Clipboard
Case Reports
Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23
Am J Med Genet.
.
Abstract
We report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and 4p15.2 [46,XY,t(3;4)(q23;p15.2)de novo]. Possible assignment of this autosomal dominant disorder is discussed. A 3q23 band is a more preferable gene locus of the belpharophimosis sequence, based on the comparison of clinical manifestations between 4p- and 3q-syndromes.
Similar articles
-
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].Am J Med Genet. 1994 Jul 1;51(3):258-9. doi: 10.1002/ajmg.1320510317. Am J Med Genet. 1994. PMID: 8074155
-
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).Genomics. 2000 Apr 1;65(1):67-9. doi: 10.1006/geno.2000.6157. Genomics. 2000. PMID: 10777667
-
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.Genomics. 1999 Apr 1;57(1):70-8. doi: 10.1006/geno.1999.5747. Genomics. 1999. PMID: 10191085
-
Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.Am J Med Genet. 1992 Nov 1;44(4):434-6. doi: 10.1002/ajmg.1320440409. Am J Med Genet. 1992. PMID: 1442882 Review.
-
Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25).Am J Med Genet. 1995 May 22;57(1):19-21. doi: 10.1002/ajmg.1320570106. Am J Med Genet. 1995. PMID: 7645592 Review.
Cited by
-
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.Am J Hum Genet. 2003 Feb;72(2):478-87. doi: 10.1086/346118. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529855 Free PMC article.
-
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.J Med Genet. 1995 Oct;32(10):774-7. doi: 10.1136/jmg.32.10.774. J Med Genet. 1995. PMID: 8558553 Free PMC article.
-
Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.Front Genet. 2021 Mar 16;12:616112. doi: 10.3389/fgene.2021.616112. eCollection 2021. Front Genet. 2021. PMID: 33796131 Free PMC article.
-
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.BMC Med Genet. 2015 Sep 1;16:73. doi: 10.1186/s12881-015-0217-7. BMC Med Genet. 2015. PMID: 26323275 Free PMC article.
-
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. J Med Genet. 1994. PMID: 7815425 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources