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A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly‐craniofacial anomalies syndrome
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Citations
20
References
1983
Year
Greig Cephalopolysyndactyly SyndromeDevelopmental AnomalyDevelopmental BiologyMendelian DisorderCraniofacial DisorderGenetic DisorderGeneticsPathologyCraniofacial DevelopmentCraniofacial AnomaliesMolecular GeneticsMedicineChromosome 9Affected ChromosomesTranslocation TNeurogeneticsGreig Polysyndactyly‐craniofacial Anomalies
A translocation t(3;7) (p21.l;p13) segregating through four generations was found to be invariably associated with the Greig cephalopolysyndactyly syndrome (GS). High resolution chromosome analyses using G and R banding did not uncover any imbalance of the affected chromosomes, nor were the late replicating patterns changed. One girl with the GS died of medulloblastoma.
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