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Start Over Author "SEVERI F." Journal european journal of pediatrics
13 results on '"SEVERI F."'

13. The syndrome of partial trisomy 14q.

Author

Lo Curto F, Maraschio P, Milanesi P, Severi F, Ugazio AC, and Zuffardi O

Subjects
Abnormalities, Multiple genetics, Foot Deformities, Congenital, Hand Deformities, Congenital, Humans, Infant, Karyotyping, Male, Microphthalmos complications, Mouth Abnormalities, Nose Deformities, Acquired, Palate abnormalities, Chromosomes, Human, 13-15, Trisomy
Abstract

The case of a 4-month-old male with de novo partial trisomy for chromosome 14 involving the p13 leads to 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.

Published
1976
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