Literature DB >> 6696011

Peters' anomaly associated with partial deletion of the long arm of chromosome 11.

J B Bateman, I H Maumenee, R S Sparkes.   

Abstract

A 5-week-old boy with Peters' anomaly was found to have an interstitial deletion of the long arm of chromosome 11; no developmental delays or dysmorphic features were evident. His right cornea was enlarged and opaque with extensive pannus formation; the anterior chamber, iris, and lens were not visible. The left eye showed a central opacity and a superficial pannus; the optic disk and macula could not be visualized. He underwent bilateral corneal transplantation. Histologic examination of the corneal buttons confirmed the diagnosis. The potential genetic mechanisms in this case included a gene for this autosomal recessive disorder on the long arm of chromosome 11, generalized disruption of the embryogenesis of the anterior segment as a result of the deleted material, or simple autosomal recessive inheritance unrelated to the chromosomal deletion.

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Year:  1984        PMID: 6696011     DOI: 10.1016/0002-9394(84)90440-9

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  6 in total

1.  Applications of comparative genomic hybridisation in constitutional chromosome studies.

Authors:  C J Breen; L Barton; A Carey; A Dunlop; M Glancy; K Hall; A M Hegarty; M T Khokhar; M Power; K Ryan; A J Green; R L Stallings
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

2.  Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.

Authors:  S Daniele; F Pecorelli; L Tiepolo; R Armellini; F S Liotti
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

3.  Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy?

Authors:  C M Mooy; B J Clark; W R Lee
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1990       Impact factor: 3.117

Review 4.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

5.  Peters plus syndrome.

Authors:  Seema Kapoor; Sharmila Banerjee Mukherjee; Ritu Arora; Daraius Shroff
Journal:  Indian J Pediatr       Date:  2008-08-31       Impact factor: 1.967

Review 6.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

  6 in total

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