The syndrome of partial trisomy 14q

F. Lo Curto, Paola Maraschio, P. Milanesi, Francesca Severi, A. C. Ugazio, Orsetta Zuffardi

Research output: Contribution to journalArticle

Abstract

The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the p13→q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral microphtalmia, high arched palate, and anomalies of hands and feet. These symptoms are found also in the other 8 cases of partial trisomy 14 reported in the literature. This confirms a characteristic chromosomal syndrome although the breaking points on the extra chromosome 14 are not the same in the 9 cases. The clinical picture of our case calls for careful investigations of the chronology of bone age and of the immunologic situation in further cases of total and partial trisomy 14.

Original languageEnglish
Pages (from-to)237-241
Number of pages5
JournalEuropean Journal of Pediatrics
Volume123
Issue number4
DOIs
Publication statusPublished - Dec 1976

Keywords

  • Chromosome 14
  • Partial trisomy 14

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Curto, F. L., Maraschio, P., Milanesi, P., Severi, F., Ugazio, A. C., & Zuffardi, O. (1976). The syndrome of partial trisomy 14q. European Journal of Pediatrics, 123(4), 237-241. https://doi.org/10.1007/BF00444645