Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

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 s...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Marangi, Giuseppe, Orteschi, Daniela, Vigevano, Federico, Felie, Jillian, Walsh, Christopher A, Manzini, M Chiara, Neri, Giovanni
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Wiley Subscription Services, Inc., A Wiley Company 2012
Θέματα:
Clinical Reports
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3363957/
https://ncbi.nlm.nih.gov/pubmed/22419660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35254
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