Literature DB >> 8435414

Two cases of coloboma associated with unbalanced translocations.

M Goggin1, M O'Keefe, H Hughes.   

Abstract

Two cases of coloboma are recorded, both secondary to previously unreported unbalanced translocations. These cases underline the association of chromosomal abnormalities and coloboma, particularly when accompanied by systemic abnormalities. They also highlight the importance of a full systemic assessment of coloboma patients and adequate genetic counselling for both patients and their families.

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Year:  1993        PMID： 8435414      PMCID： PMC504446          DOI： 10.1136/bjo.77.2.122

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  8 in total

1.  ANOPHTHALMIA AND MALDEVELOPMENT OF THE EYES: FOUR CASES IN THE SAME FAMILY.

Authors:  L McMillan
Journal:  Br J Ophthalmol       Date:  1921-03       Impact factor: 4.638

2.  X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.

Authors:  M F Goldberg; V A McKusick
Journal:  Am J Ophthalmol       Date:  1971-05       Impact factor: 5.258

3.  Colobomatous malformations of the ocular globe.

Authors:  J Francois
Journal:  Int Ophthalmol Clin       Date:  1968

Review 4.  Deletion (13)(q14.1q14.3) in two generations: variability of ocular manifestations and definition of the phenotype.

Authors:  W G Wilson; P A Campochiaro; B P Conway; B T Carter; K W Sudduth; B A Watson; R S Sparkes
Journal:  Am J Med Genet       Date:  1987-11

5.  The genetic implications of optic disc anomalies.

Authors:  D S Taylor
Journal:  Trans Ophthalmol Soc U K       Date:  1985

6.  Diagnostic precision in microphthalmos and coloboma of heterogeneous origin.

Authors:  M Warburg
Journal:  Birth Defects Orig Artic Ser       Date:  1982

7.  The trisomy 4p syndrome: case report and review.

Authors:  C H Gonzalez; A Sommer; L F Meisner; B R Elejalde; J M Opitz
Journal:  Am J Med Genet       Date:  1977

Review 8.  Ocular coloboma.

Authors:  R A Pagon
Journal:  Surv Ophthalmol       Date:  1981 Jan-Feb       Impact factor: 6.048
  8 in total
  3 in total

1.  Trisomy 4p and ocular defects.

Authors:  I W Lurie; V A Samochvalov
Journal:  Br J Ophthalmol       Date:  1994-05       Impact factor: 4.638

Review 2.  Clinical manifestations of trisomy 4p syndrome.

Authors:  S V Patel; H Dagnew; A J Parekh; E Koenig; R A Conte; M J Macera; R S Verma
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

3.  Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.

Authors:  Viviane Neri de Souza Reis; João Paulo Kitajima; Ana Carolina Tahira; Ana Cecília Feio-Dos-Santos; Rodrigo Ambrósio Fock; Bianca Cristina Garcia Lisboa; Sérgio Nery Simões; Ana C V Krepischi; Carla Rosenberg; Naila Cristina Lourenço; Maria Rita Passos-Bueno; Helena Brentani
Journal:  PLoS One       Date:  2017-01-24       Impact factor: 3.240
  3 in total

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