Ophthalmologic observations in a patient with partial mosaic trisomy 8

Khaled K. Abu-Amero, Altaf A. Kondkar, Mustafa A. Salih, Muneera Al-Husain, Muneera Al Shammari, Ghassan Zeidan, Darren T. Oystreck, Ali M. Hellani, Amal Y. Kentab, Thomas Bosley

Research output: Contribution to journalArticle

Abstract

Background: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic features. Methods: Ophthalmologic and neuro-ophthalmologic examination; neuroimaging; conventional karyotyping; and array comparative genomic hybridization (CGH). Results: The proband was the only affected child of a non-consanguineous family. At birth she was noted to have facial dysmorphism including telecanthus, low set ears, prominent nares, and an everted lower lip. She had an accommodative esotropia with otherwise normal globes, optic nerves, retinae, and orbits. She also had delayed motor milestones and mild mental retardation associated with agenesis of the corpus callosum. Both karyotyping and array CGH documented mosaic partial trisomy of chromosome 8 that included all of the "q" arm and part of the proximal "p" arm. Conclusions: This girl had a number of the classic features of mosaic trisomy 8, including an accommodative esotropia with none of the other ocular and orbital anomalies described in patients with mosaic trisomy 8. This report constitutes an initial effort to create a virtual database of patients with mosaic chromosome 8 in which careful phenotype-genotype correlation employing high resolution array CGH may help identify clues regarding the genetic etiology of ophthalmologic features of this syndrome.

Original languageEnglish (US)
Pages (from-to)249-253
Number of pages5
JournalOphthalmic Genetics
Volume34
Issue number4
DOIs
StatePublished - Dec 2013
Externally publishedYes

Fingerprint

Comparative Genomic Hybridization
Esotropia
Karyotyping
Arm
Agenesis of Corpus Callosum
Chromosomes, Human, Pair 8
Genetic Association Studies
Orbit
Optic Nerve
Lip
Neuroimaging
Intellectual Disability
Ear
Retina
Genotype
Parturition
Databases
Phenotype
Partial trisomy Chromosome 8
Trisomy Chromosome 8

Keywords

  • Accommodative esotropia
  • Agenesis of corpus callosum
  • Dysmorphism
  • Mosaic trisomy 8

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Cite this

Abu-Amero, K. K., Kondkar, A. A., Salih, M. A., Al-Husain, M., Al Shammari, M., Zeidan, G., ... Bosley, T. (2013). Ophthalmologic observations in a patient with partial mosaic trisomy 8. Ophthalmic Genetics, 34(4), 249-253. https://doi.org/10.3109/13816810.2012.762933

Ophthalmologic observations in a patient with partial mosaic trisomy 8. / Abu-Amero, Khaled K.; Kondkar, Altaf A.; Salih, Mustafa A.; Al-Husain, Muneera; Al Shammari, Muneera; Zeidan, Ghassan; Oystreck, Darren T.; Hellani, Ali M.; Kentab, Amal Y.; Bosley, Thomas.

In: Ophthalmic Genetics, Vol. 34, No. 4, 12.2013, p. 249-253.

Research output: Contribution to journalArticle

Abu-Amero, KK, Kondkar, AA, Salih, MA, Al-Husain, M, Al Shammari, M, Zeidan, G, Oystreck, DT, Hellani, AM, Kentab, AY & Bosley, T 2013, 'Ophthalmologic observations in a patient with partial mosaic trisomy 8', Ophthalmic Genetics, vol. 34, no. 4, pp. 249-253. https://doi.org/10.3109/13816810.2012.762933
Abu-Amero KK, Kondkar AA, Salih MA, Al-Husain M, Al Shammari M, Zeidan G et al. Ophthalmologic observations in a patient with partial mosaic trisomy 8. Ophthalmic Genetics. 2013 Dec;34(4):249-253. https://doi.org/10.3109/13816810.2012.762933
Abu-Amero, Khaled K. ; Kondkar, Altaf A. ; Salih, Mustafa A. ; Al-Husain, Muneera ; Al Shammari, Muneera ; Zeidan, Ghassan ; Oystreck, Darren T. ; Hellani, Ali M. ; Kentab, Amal Y. ; Bosley, Thomas. / Ophthalmologic observations in a patient with partial mosaic trisomy 8. In: Ophthalmic Genetics. 2013 ; Vol. 34, No. 4. pp. 249-253.
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