Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 54, Issue 1, Pages 89-93Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2010.09.006
Keywords
GRB10; Chromosome 7p deletion; Beckwith Wiedemann syndrome; Circumferential skin folds of the limbs; MODY type 2
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We present an infant with a de novo cytogenetically visible interstitial deletion of approximately 21.9 Mb involving chromosome bands 7p15.1-7p12.1, with the loss of 119 genes confirmed by array CGH. The infant had a ventricular septal defect, hand and skull anomalies, and hyperglycaemia compatible with haploinsufficiency of TBX20, GLI3, and GCK genes, respectively. In addition, the infant had some features reminiscent of Beckwith Wiedemann syndrome including macroglossia, umbilical hernia, and a relatively large birth weight and we speculate that this is due to the deletion of GRB10, an imprinted gene on chromosome 7. This report illustrates how knowledge of genes within a deleted interval facilitates optimal medical management, can explain observed phenotypes, and stimulates research questions. (C) 2010 Elsevier Masson SAS. All rights reserved.
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