Blepharophimosis-ptosis-epicanthus inversus syndrome associated with interstitial deletion of chromosome 3q21-23

Journal of Pediatric Ophthalmology and Strabismus

Volumn 35, Issue 4, 1998, Pages 242-243

  Noda, Kosuke ^a   Mashima, Yukihiko ^a   Nakamura, Yu ^a   Tanaka, Yasuhiko ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CASE REPORT; CHROMOSOME 3Q; CLINICAL FEATURE; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE 46,XX; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SYNDROME DELINEATION;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; FACIES; FEMALE; HUMANS; SYNDROME;

EID: 0031880477     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Oley C, Baraitser M. Blepharophimosis, ptosis epicanthus inversus syndrome (BPES syndrome). J Med Genet. 1988;25:47-51.
2. Fukushima Y, Wakui K, Nishida T. Ueoka Y. 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. 1991;40:485-487.
3. 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.
4. 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.
5. Lawson CT, Toomes C, Fryer A, et al. Definition of the ble-pharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet. 1995;4:963-967.
6. Warburg M, Bugge M, Brøndum-Nielsen K. Cytogenic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet. 1995;32:19-24.
7. Small KW, Stalvey M, Fisher L, et al. Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet. 1995;4:443-448.
8. 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.
9. Harrar HS, Jeffery S, Patton MA. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet. 1995;32:774-777.
10. 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.