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Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families

✍ Scribed by O. Žilina; T. Reimand; P. Zjablovskaja; K. Männik; M. Männamaa; A. Traat; H. Puusepp-Benazzouz; A. Kurg; K. Õunap

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 100 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34378

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## Abstract Using an Affymetrix GeneChip® Human Mapping 100K Set to study a patient with a late‐presenting, right‐sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in sit