RT Journal Article
SR Electronic
T1 A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 467
OP 470
DO 10.1136/jmg.21.6.467
VO 21
IS 6
A1 B Dallapiccola
A1 G Ferranti
A1 A Giannotti
A1 G Novelli
A1 L Pasquini
A1 B Porfirio
YR 1984
UL http://jmg.bmj.com/content/21/6/467.abstract
AB 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.