Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

Abstract excerpt

We report on a patient with a 1.2 Mb 19p13.12-p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile seizures and without significant physical anomalies or major malformations. The deleted region includes 29 coding...

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