Trisomy 20p due to a paternal reciprocal translocation

Funderburk, S.J.; Sparkes, R.S.; Sparkes, M.C.

Annales de Genetique 26(2): 94-97

1983


ISSN/ISBN: 0003-3995
PMID: 6604493
Document Number: 221038
A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal translocation (5;20)(p15;p11). The patient had a cleft palate, a feature not present in other trisomy 20p patients. A review of the reported trisomy 20p patients indicates that their varied features do no constitute a readily recognizable clinical syndrome.

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