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Partial trisomy 12p due to t(12;21)pat translocation

โœ Scribed by B. Biederman; P. Bowen; C. Robertson; D. Schiff

Publisher
Springer
Year
1977
Tongue
English
Weight
690 KB
Volume
36
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in five reported cases with a similar chromosomal imbalance shows certain features common to all, but the material is too limited for definitive characterization of a trisomy 12p syndrome.

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