Abstract
We describe a patient with type I diabetes, clinical findings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low C-peptide level. He had distinctive facial features, learning disabilities, short stature, and a history of glottic web and clubfoot. Although a normal karyotype was obtained, fluorescence in situ hybridization (FISH) revealed a submicroscopic deletion in the DiGeorge/velocardiofacial syndrome critical region at 22q11.2. His maternal half-brother also carried a chromosome 22q11.2 deletion. His mother has similar facial features and hypoparathyroidism. Autoimmune problems associated with chromosome 22q11.2 deletions have been reported. We suggest that the defects in immune regulation due to T-cell deficiency in chromosome 22q11.2 deletion syndrome may predispose to autoimmune disorders, including type I diabetes mellitus.
References
Feb 1, 1975·Archives of Otolaryngology·F O BlackR I Kohut
Jan 1, 1986·American Journal of Medical Genetics. Supplement·E J Lammer, J M Opitz
Apr 1, 1985·The Journal of Pediatrics·A J Ham PongA S Goldman
Jul 1, 1995·Journal of Medical Genetics·D R LynchK H Fischbeck
Aug 1, 1995·The Journal of Pediatrics·A K Junker, D A Driscoll
Feb 13, 1995·American Journal of Medical Genetics·M C DigilioA Giannotti
May 1, 1994·American Journal of Medical Genetics·R W Novak, H B Robinson
Oct 1, 1993·Journal of Medical Genetics·J G Hall
Oct 1, 1993·Journal of Medical Genetics·F Greenberg
Nov 15, 1993·American Journal of Medical Genetics·T A WilsonD A Driscoll
Oct 1, 1995·Clinical Dysmorphology·D De SilvaJ C Dean
Sep 6, 1996·American Journal of Medical Genetics·S A RasmussenR T Zori
Mar 1, 1997·Arthritis and Rheumatism·K E SullivanG Keenan
Apr 14, 1997·American Journal of Medical Genetics·A LévyN Philip
Nov 5, 1997·The Journal of Pediatrics·A D DePieroR W Hostoffer
Nov 14, 1997·Journal of Medical Genetics·A K RyanP J Scambler
Dec 1, 1998·Journal of Medical Genetics·A VerloesP Blanchet
Citations
Jan 21, 2003·Prenatal Diagnosis·Chih-Ping ChenLawrence S T Yang
Aug 25, 2011·Journal of Clinical Immunology·Abbas F JawadKathleen E Sullivan
Aug 16, 2012·European Journal of Human Genetics : EJHG·David M AlvaradoChristina A Gurnett
Nov 19, 2002·Current Opinion in Pediatrics·Elena Perez, Kathleen E Sullivan
Jul 5, 2005·Hormone Research·Jin-Ho ChoiHan-Wook Yoo
Jun 2, 2007·Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre·N A Akar, A D Adekile
Mar 11, 2011·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·J Guerrero FernándezR Gracia Bouthelier
Jun 14, 2005·The British Journal of Dermatology·N OkiyamaK Nishioka
Jan 11, 2014·IEEE/ACM Transactions on Computational Biology and Bioinformatics·Daniele CatanzaroBjarni V Halldórsson
Jul 22, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Aliya F RehmanMatthew J Barrett
Oct 1, 2014·Diabetes Technology & Therapeutics·Vito TerlizziAdriana Franzese
Sep 26, 2020·Frontiers in Endocrinology·Eleni Magdalini Kyritsi, Christina Kanaka-Gantenbein