Article
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.
American journal of medical genetics. Part A - 1 Jan 2010
D'Angelo Carla S, Kohl Ilana, Varela Monica Castro, de Castro Cláudia I E, Kim Chong A, Bertola Débora R, Lourenço Charles M, Koiffmann Célia P
Abstract excerpt
Rearrangements of 1p36 are the most frequently detected abnormalities in diagnostic testing for chromosomal cryptic imbalances and include variably sized simple terminal deletions, derivative chromosomes, interstitial deletions, and complex rearrangements. These rearrangements result in the speci...
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