Case Reports
doi: 10.1007/BF00390433.
Partial trisomy 12p due to t(12;21)pat translocation
- PMID: 858622
- DOI: 10.1007/BF00390433
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Case Reports
Partial trisomy 12p due to t(12;21)pat translocation
Hum Genet.
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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.
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