Congenital Bilateral Severe Microphthalmia with Mental Retardation and Cerebral Palsy: Chromosome Aberration, 46, XY, t (2;6)(q31;q24)

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Congenital bilateral severe microphthalmia with mental retardation and cerebral palsy: chromosome aberration, 46, XY, t (2;6)(q31;q24).

Congenital bilateral anophthalmia and microphthalmia are rare conditions, with overall prevalence in one study set at 1.0 per 10,000 births. We report here a case of congenital bilateral severe microphthalmia with mental retardation and cerebral palsy. The patient was man aged 38 years with a chromosome aberration, namely a balanced translocation: 46, XY, t (2;6)(q31;q24). He had no other malfo...

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This article may be used for research, teaching, and private study purposes. Any substantial or systematic reproduction, redistribution, reselling, loan, sub-licensing, systematic supply, or distribution in any form to anyone is expressly forbidden. The publisher does not give any warranty express or implied or make any representation that the contents will be complete or accurate or up to date...

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ژورنال

عنوان ژورنال: Journal of Nippon Medical School

سال: 2005

ISSN: 1345-4676,1347-3409

DOI: 10.1272/jnms.72.242