Chromosome 20 long arm deletion in an elderly malformed man

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Abstract

A 46,XY/46,XY,del(20)(q13→q13.33) mosaicism was identified in a 68 year old man who had mild mental retardation and severe malformation of the limbs. The clinical findings of the patient are compared to those of the very few cases of 20q deletion published to date.

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Shabtai, F., Ben-Sasson, E., Arieli, S., & Grinblat, J. (1993). Chromosome 20 long arm deletion in an elderly malformed man. Journal of Medical Genetics, 30(2), 171–173. https://doi.org/10.1136/jmg.30.2.171

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