PMID- 11343331
OWN - NLM
STAT- MEDLINE
DCOM- 20010712
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 101
IP  - 1
DP  - 2001 Jun 1
TI  - Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.
PG  - 17-9
AB  - 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.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Elder, D A
AU  - Elder DA
AD  - Division of Endocrinology, Department of Pediatrics, University of North Carolina 
      at Chapel Hill, Chapel Hill, NC 27599,USA.
FAU - Kaiser-Rogers, K
AU  - Kaiser-Rogers K
FAU - Aylsworth, A S
AU  - Aylsworth AS
FAU - Calikoglu, A S
AU  - Calikoglu AS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Craniofacial Abnormalities/*genetics
MH  - Diabetes Mellitus, Type 1/*genetics/immunology
MH  - Humans
MH  - In Situ Hybridization
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Syndrome
EDAT- 2001/05/09 10:00
MHDA- 2001/07/13 10:01
CRDT- 2001/05/09 10:00
PHST- 2001/05/09 10:00 [pubmed]
PHST- 2001/07/13 10:01 [medline]
PHST- 2001/05/09 10:00 [entrez]
AID - 10.1002/ajmg.1293 [pii]
AID - 10.1002/ajmg.1293 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Jun 1;101(1):17-9. doi: 10.1002/ajmg.1293.