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Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation

✍ Scribed by Rossella Caselli; Maria Antonietta Mencarelli; Filomena Tiziana Papa; Francesca Ariani; Ilaria Longo; Ilaria Meloni; Giuseppina Vonella; Maurizio Acampa; Alberto Auteri; Stefano Vicari; Alessandra Orsi; Giuseppe Hayek; Alessandra Renieri; Francesca Mari


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
199 KB
Volume
146A
Category
Article
ISSN
1552-4825

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## Abstract Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on