A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.

Trisomy 20p from maternal t(3;20) translocation

ARCHIDIACONO, Nicoletta;ROCCHI, Mariano;
1979-01-01

Abstract

A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11586/129712
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