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The syndrome of partial trisomy 14q

✍ Scribed by F. Lo Curto; Paola Maraschio; P. Milanesi; Francesca Severi; A. C. Ugazio; Orsetta Zuffardi

Publisher: Springer
Year: 1976
Tongue: English
Weight: 616 KB
Volume: 123
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00444645

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✦ Synopsis

The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, 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 ease calls for careful investigations of the chronology of bone age and of the immunologic situation in further cases of total and partial trisomy 14.

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