Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Associated With Interstitial Deletion of Chromosome 3q21-23
1998; Slack Incorporated (United States); Volume: 35; Issue: 4 Linguagem: Inglês
10.3928/0191-3913-19980701-16
ISSN1938-2405
AutoresKosuke Noda, Yukihiko Mashima, Yu Nakamura, Yasuhiko Tanaka,
Tópico(s)Fetal and Pediatric Neurological Disorders
ResumoSHORT SUBJECTSBlepharophimosis-Ptosis-Epicanthus Inversus Syndrome Associated With Interstitial Deletion of Chromosome 3q21-23 Kosuke Noda, MD, , , MD Yukihiko Mashima, MD, , , MD Yu Nakamura, MD, , and , MD Yasuhiko Tanaka, MD, , MD Kosuke Noda, MD , Yukihiko Mashima, MD , Yu Nakamura, MD , and Yasuhiko Tanaka, MD Journal of Pediatric Ophthalmology & Strabismus, 2013;35(4):242–243Published Online:July 01, 1998https://doi.org/10.3928/0191-3913-19980701-16Cited by:7PDFView Full Text ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinkedInRedditEmail SectionsMore"Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Associated With Interstitial Deletion of Chromosome 3q21-23." Journal of Pediatric Ophthalmology & Strabismus, 35(4), pp. 242–2431. Oley C, Baraitser M. Blepharophimosis, ptosis epicanthus inversus syndrome (BPES syndrome). J Med Genet. 1988;25:47-51. Google Scholar2. Fukushima Y, Wakui K, Nishida T. Ueoka Y. Blepharophimosis sequence and de novo balanced autosomal translocation [46,xY,t3;4)(q23;pl5.2)l: Possible assignment of the trait to 3q23. Am J Med Genet. 1991;40:485-487. Google Scholar3. Ishikiriyama S, Goto M. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23). Am J Med Genet. 1993;47:487-489. Google Scholar4. Jewett T, Rao PN, Weaver RG, Stewart W, Thomas LT, Pettenati MJ. Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22. Am J Med Genet. 1993;47:1147-1150. Google Scholar5. Lawson CT, Tbomes C, Fryer A, et al. Definition of the blepharo phimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet. 1995;4:963-967. Google Scholar6. Warburg M, Bugge M, Br0ndum-Nielsen K. Cytogenic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet. 1995 ;32: 19-24. Google Scholar7. Small KW, Stalvey M, Fisher L, et al. Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet. 1995;4:443-448. Google Scholar8. Amati P. Chomel JC, Nivelon-Chevalier A, et al. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet. 1995;96:213-215. Google Scholar9. Harrar HS, Jeffery S, Patton MA. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet. 1995;32:774-777. Google Scholar10. Smith A, Fraser IS, Shearman RP, Russell P. Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. J Med Genet. 1989;26:434-438. Google Scholar Previous article FiguresReferencesRelatedDetailsCited by Khan A, Alam S, Aldahmesh M, Rajab M and Meyer B (2009) Familial Blepharophimosis-Like Syndrome with Esotropia, Uveal Coloboma, and Short Stature, Ophthalmic Genetics, 10.1080/13816810600862501, 27:3, (79-82), Online publication date: 1-Jan-2006. de Ru M, Gille J, Nieuwint A, Bijlsma J, van der Blij J and van Hagen J (2005) Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature, American Journal of Medical Genetics Part A, 10.1002/ajmg.a.30786, 137A:1, (81-87), Online publication date: 15-Aug-2005. Ramírez-Castro J, Pineda-Trujillo N, Valencia A, Muñetón C, Botero O, Trujillo O, Vásquez G, Mora B, Durango N, Bedoya G and Ruiz-Linares A (2002) Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families , American Journal of Medical Genetics, 10.1002/ajmg.10741, 113:1, (47-51), Online publication date: 15-Nov-2002. De Baere E, Fukushima Y, Small K, Udar N, Van Camp G, Verhoeven K, Palotie A, De Paepe A and Messiaen L (2000) Identification of BPESC1, a Novel Gene Disrupted by a Balanced Chromosomal Translocation, t(3;4)(q23;p15.2), in a Patient with BPES, Genomics, 10.1006/geno.2000.6304, 68:3, (296-304), Online publication date: 1-Sep-2000. Sakol P, Mannor G and Massaro B (1999) Congenital and acquired blepharoptosis, Current Opinion in Opthalmology, 10.1097/00055735-199910000-00010, 10:5, (335-339), Online publication date: 1-Oct-1999. De Baere E, Van Roy N, Speleman F, Fukushima Y, De Paepe A and Messiaen L (1999) Closing in on the BPES Gene on 3q23: Mapping of ade NovoReciprocal Translocation t(3;4)(q23;p15.2) Breakpoint within a 45-kb Cosmid and Mapping of Three Candidate Genes, RBP1, RBP2, and β′-COP, Distal to the Breakpoint, Genomics, 10.1006/geno.1999.5747, 57:1, (70-78), Online publication date: 1-Apr-1999. Greenmyer J, Thompson W, Hoppman N, Khan S, Patnaik M, Schimmenti L and Kohorst M (2021) 3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome , British Journal of Haematology, 10.1111/bjh.17902 Request Permissions InformationCopyright 2013, SLACK IncorporatedPDF download
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