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. 1994 Aug;31(8):647–648. doi: 10.1136/jmg.31.8.647

Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

J Wolstenholme 1, J Brown 1, K G Masters 1, C Wright 1, C J English 1
PMCID: PMC1050030  PMID: 7815425

Abstract

A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Al-Awadi S. A., Naguib K. K., Farag T. I., Teebi A. S., Cuschieri A., Al-Othman S. A., Sundareshan T. S. Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. J Med Genet. 1986 Feb;23(1):91–92. doi: 10.1136/jmg.23.1.91. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Alvarado M., Bocian M., Walker A. P. Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Am J Med Genet. 1987 Aug;27(4):781–786. doi: 10.1002/ajmg.1320270406. [DOI] [PubMed] [Google Scholar]
  3. Fryns J. P., Strømme P., van den Berghe H. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. Clin Genet. 1993 Sep;44(3):149–151. doi: 10.1111/j.1399-0004.1993.tb03867.x. [DOI] [PubMed] [Google Scholar]
  4. Fujita H., Meng J., Kawamura M., Tozuka N., Ishii F., Tanaka N. Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. Am J Med Genet. 1992 Nov 1;44(4):434–436. doi: 10.1002/ajmg.1320440409. [DOI] [PubMed] [Google Scholar]
  5. 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 Sep 15;40(4):485–487. doi: 10.1002/ajmg.1320400423. [DOI] [PubMed] [Google Scholar]
  6. Martsolf J. T., Ray M. Interstitial deletion of the long arm of chromosome 3. Ann Genet. 1983;26(2):98–99. [PubMed] [Google Scholar]
  7. Oley C., Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) J Med Genet. 1988 Jan;25(1):47–51. doi: 10.1136/jmg.25.1.47. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Smith A., Fraser I. S., Shearman R. P., Russell P. Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. J Med Genet. 1989 Jul;26(7):434–438. doi: 10.1136/jmg.26.7.434. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Williamson R. A., Donlan M. A., Dolan C. R., Thuline H. C., Harrison M. T., Hall J. G. Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring. Am J Med Genet. 1981;9(2):105–111. doi: 10.1002/ajmg.1320090204. [DOI] [PubMed] [Google Scholar]
  10. Zlotogora J., Sagi M., Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet. 1983 Sep;35(5):1020–1027. [PMC free article] [PubMed] [Google Scholar]
  11. de Almeida J. C., Llerena Júnior J. C., Gonçalves Neto J. B., Jung M., Martins R. R. Another example favouring the location of BPES at 3q2. J Med Genet. 1993 Jan;30(1):86–86. doi: 10.1136/jmg.30.1.86. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. de Die-Smulders C. E., Engelen J. J., Donk J. M., Fryns J. P. Further evidence for the location of the BPES gene at 3q2. J Med Genet. 1991 Oct;28(10):725–725. doi: 10.1136/jmg.28.10.725. [DOI] [PMC free article] [PubMed] [Google Scholar]

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