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

B. Dallapiccola, G. Ferranti, A. Giannotti, G. Novelli, L. Pasquini, B. Porfirio

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)467-470
Number of pages4
JournalJournal of Medical Genetics
Volume21
Issue number6
Publication statusPublished - 1984

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Neutrophils
Chromosomes
Trisomy mosaic Chromosome 14
Trisomy 13 syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Dallapiccola, B., Ferranti, G., Giannotti, A., Novelli, G., Pasquini, L., & Porfirio, B. (1984). A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. Journal of Medical Genetics, 21(6), 467-470.

A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. / Dallapiccola, B.; Ferranti, G.; Giannotti, A.; Novelli, G.; Pasquini, L.; Porfirio, B.

In: Journal of Medical Genetics, Vol. 21, No. 6, 1984, p. 467-470.

Research output: Contribution to journalArticle

Dallapiccola, B, Ferranti, G, Giannotti, A, Novelli, G, Pasquini, L & Porfirio, B 1984, 'A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils', Journal of Medical Genetics, vol. 21, no. 6, pp. 467-470.
Dallapiccola B, Ferranti G, Giannotti A, Novelli G, Pasquini L, Porfirio B. A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. Journal of Medical Genetics. 1984;21(6):467-470.
Dallapiccola, B. ; Ferranti, G. ; Giannotti, A. ; Novelli, G. ; Pasquini, L. ; Porfirio, B. / A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. In: Journal of Medical Genetics. 1984 ; Vol. 21, No. 6. pp. 467-470.
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