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. 1995 Jan;32(1):19–24. doi: 10.1136/jmg.32.1.19

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

M Warburg 1, M Bugge 1, K Brøndum-Nielsen 1
PMCID: PMC1050173  PMID: 7897621

Abstract

Three unrelated, mentally retarded boys with typical blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) were found to have chromosomal aberrations. One of them had a del(3)(p25), another patient had a de novo translocation t(2; 3), which after high resolution banding combined with chromosome painting was interpreted to be unbalanced with a loss of band q23. The third patient had a del(7)(q34). The phenotypes of the two patients with chromosome 3 related syndromes were similar, but the third also had genital malformations resembling the Smith-Lemli-Opitz syndrome. This patient had a palatal ridge, and a single mesial maxillary tooth suggesting the holoprosencephaly sequence, but CT scans of the brain were normal.

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Selected References

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

  1. Beck B., Mikkelsen M. Chromosomes in the Cornelia de Lange syndrome. Hum Genet. 1981;59(4):271–276. doi: 10.1007/BF00295457. [DOI] [PubMed] [Google Scholar]
  2. Berry R., Wilson H., Robinson J., Sandlin C., Tyson W., Campbell J., Porreco R., Manchester D. Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). Am J Med Genet. 1989 Nov;34(3):358–365. doi: 10.1002/ajmg.1320340312. [DOI] [PubMed] [Google Scholar]
  3. Boccone L., Meloni A., Falchi A. M., Usai V., Cao A. 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):258–259. doi: 10.1002/ajmg.1320510317. [DOI] [PubMed] [Google Scholar]
  4. Bogart M. H., Cunniff C., Bradshaw C., Jones K. L., Jones O. W. Terminal deletions of the long arm of chromosome 7: five new cases. Am J Med Genet. 1990 May;36(1):53–55. doi: 10.1002/ajmg.1320360112. [DOI] [PubMed] [Google Scholar]
  5. Cohen M. M., Jr Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet. 1989 Oct;34(2):271–288. doi: 10.1002/ajmg.1320340232. [DOI] [PubMed] [Google Scholar]
  6. DEMYER W., ZEMAN W., PALMER C. G. THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY). Pediatrics. 1964 Aug;34:256–263. [PubMed] [Google Scholar]
  7. Fraser I. S., Shearman R. P., Smith A., Russell P. An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil Steril. 1988 Nov;50(5):747–751. doi: 10.1016/s0015-0282(16)60309-6. [DOI] [PubMed] [Google Scholar]
  8. Friedrich U., Osterballe O., Stenbjerg S., Jørgensen J. A girl with karyotype 46,XX,del(7)(pter leads to q32:). Hum Genet. 1979 Oct 1;51(2):231–235. doi: 10.1007/BF00287183. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. 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]
  11. Hatziioannou A. G., Krauss C. M., Lewis M. B., Halazonetis T. D. Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36. Am J Med Genet. 1991 Aug 1;40(2):201–205. doi: 10.1002/ajmg.1320400216. [DOI] [PubMed] [Google Scholar]
  12. Hertz B. G. Acuity card testing of retarded children. Behav Brain Res. 1987 May;24(2):85–92. doi: 10.1016/0166-4328(87)90246-4. [DOI] [PubMed] [Google Scholar]
  13. Ishikiriyama S., Goto M. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? Am J Med Genet. 1993 Sep 15;47(4):487–489. doi: 10.1002/ajmg.1320470411. [DOI] [PubMed] [Google Scholar]
  14. Jewett T., Rao P. N., Weaver R. G., Stewart W., Thomas I. T., Pettenati M. J. 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. Am J Med Genet. 1993 Dec 1;47(8):1147–1150. doi: 10.1002/ajmg.1320470802. [DOI] [PubMed] [Google Scholar]
  15. Krauss C. M., Liptak K. J., Aggarwal A., Robinson D. Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat. Am J Med Genet. 1989 Dec;34(4):514–519. doi: 10.1002/ajmg.1320340412. [DOI] [PubMed] [Google Scholar]
  16. Lurie I. W., Ilyina H. G., Podleschuk L. V., Gorelik L. B., Zaletajev D. V. Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. Am J Med Genet. 1990 Feb;35(2):286–288. doi: 10.1002/ajmg.1320350229. [DOI] [PubMed] [Google Scholar]
  17. Merrild U., Berggreen S., Hansen L., Mikkelsen M., Henningsen K. Partial deletion of the short arm of chromosome 3. Eur J Pediatr. 1981 May;136(2):211–216. doi: 10.1007/BF00441927. [DOI] [PubMed] [Google Scholar]
  18. Morichon-Delvallez N., Delezoide A. L., Vekemans M. Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter. J Med Genet. 1993 Jun;30(6):521–524. doi: 10.1136/jmg.30.6.521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Mowrey P. N., Chorney M. J., Venditti C. P., Latif F., Modi W. S., Lerman M. I., Zbar B., Robins D. B., Rogan P. K., Ladda R. L. Clinical and molecular analyses of deletion 3p25-pter syndrome. Am J Med Genet. 1993 Jul 1;46(6):623–629. doi: 10.1002/ajmg.1320460604. [DOI] [PubMed] [Google Scholar]
  20. Narahara K., Kikkawa K., Murakami M., Hiramoto K., Namba H., Tsuji K., Yokoyama Y., Kimoto H. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet. 1990 Feb;35(2):269–273. doi: 10.1002/ajmg.1320350225. [DOI] [PubMed] [Google Scholar]
  21. Nistrup Madsen H., Lundsteen C., Steinrud J. A case of partial deletion of the long arm of chromosome 7 (7q34 leads to 7qter). Dan Med Bull. 1983 Feb;30(1):14–16. [PubMed] [Google Scholar]
  22. Serup L. Interstitial deletion of the long arm of chromosome 7. Hum Genet. 1980;54(1):19–23. doi: 10.1007/BF00279044. [DOI] [PubMed] [Google Scholar]
  23. 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]
  24. Taysi K., Burde R. M., Rohrbaugh J. R. Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. Ann Genet. 1982;25(3):159–161. [PubMed] [Google Scholar]
  25. Tsukamoto H., Sakai N., Taniike M., Nakatsukasa M., Yoshiwara W., Sakamoto H., Fujimura H., Inui K., Okada S. Case of ring chromosome 7: the first report of neuropathological findings. Am J Med Genet. 1993 Jul 1;46(6):632–635. doi: 10.1002/ajmg.1320460606. [DOI] [PubMed] [Google Scholar]
  26. Warburg M., Friedrich U. Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field. Ophthalmic Paediatr Genet. 1987 Jun;8(2):105–118. doi: 10.3109/13816818709028526. [DOI] [PubMed] [Google Scholar]
  27. 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]
  28. 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]

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