Partial trisomy 12p due to t(12;21)pat translocation
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 36 (1), 35-41
- https://doi.org/10.1007/bf00390433
Abstract
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.This publication has 8 references indexed in Scilit:
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