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A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

1984; BMJ; Volume: 21; Issue: 6 Linguagem: Inglês

10.1136/jmg.21.6.467

1468-6244

Bruno Dallapiccola, G Ferranti, Aldo Giannotti, Giuseppe Novelli, Luca Pasquini, Berardino Porfirio,

Genomic variations and chromosomal abnormalities

Mosaic trisomy 14 is described in a patient with severe developmental retardation and congenital malformations. Together with a few previous reports, this case suggests the existence of a syndrome associated with this chromosome imbalance. Hitherto unrecognised manifestations of trisomy 14 mosaicism were, in our patient, abnormalities of the neutrophil nuclei, which consisted of multiple pedunculated or sessile projections, similar to those characteristically associated with trisomy 13 syndrome.