Literature DB >> 6545387

Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation.

I M MacDonald, W N Clarke, B G Clifford, J C Reid, D M Cox, A G Hunter.   

Abstract

A newborn with partial trisomy 2q, due to a maternal (2;6) translocation is presented. The baby had microcephaly, a prominent forehead, hypertelorism, a broad nose with a flat nasal bridge, a long philtrum, micrognathia, and low set ears which are common to cases with partial 2q trisomy. Additional findings of aniridia and marked corneal pathology are reported.

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Year:  1984        PMID: 6545387     DOI: 10.3109/13816818409007841

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  2 in total

Review 1.  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

Review 2.  Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Authors:  Douglas B Gould; Mohamad S Jaafar; Mark K Addison; Francis Munier; Robert Ritch; Ian M MacDonald; Michael A Walter
Journal:  BMC Med Genet       Date:  2004-06-25       Impact factor: 2.103

  2 in total

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