DiGeorge II (10p14)
DiGeorge syndrome1, and a variety of congenital malformation syndromes including Velocardiofacial syndrome (VCFS)2, share the deletion of chromosome 22 at 22q11.22,3,4,5. These chromosome 22 deletions are collectively coined CATCH22, a mnemonic that covers the clinical findings of Cardiac abnormality, Abnormal facies, Thymic aplasia, Cleft palate and Hypocalaemia/Hyperthyroidism due to a chromosome 22 deletion. In DiGeorge syndrome, however, cases have also been found in which patients have a deletion on chromosome 10p13.4 (DGS2) instead of chromosome 226,7,8.
The deletion of the DGS2 locus on 10p may be 50 times less frequent than that of the DGS1 locus on 22q and has been estimated to occur in 1 in 200,000 live births9. A gene called BRUNOL3 (now named CELF2) has been identified within the 300kb minimally deleted region of DGS2 and is postulated to be involved in the DGS2 deletion10. BRUNOL3 is a candidate gene for the heart defect and thymus hypoplasia/aplasia associated with partial monosomy 10p10 and may be involved in atrial septal defects (ASDs), a common cardiac anomaly associated with DGS211.
1. DiGeorge AM, J Pediatr 1965;67:907
2. Shprintzen RJ et al., Cleft Palate J 1978;15:56-62
3. Wilson DI et al., J Med Genet 1993;30:852-6
4. Driscoll DA et al., J Med Genet 1992;50:924-33
5. Burn J et al., J Med Genet 1993;30:822-4
6. Schuffenhauer S et al., Ann Genet 1995;38(3):162-7
7. Daw SC et al., Nat Genet 1996;13:458-60
8. Dasouki M et al., Am J Med Genet 1997;73(1):72-5
9. Berend SA et al., Am J Med Genet 2000;91(4):313-7
10. Lichtner P et al., J Mol Med 2002;80:431-42
11. Yatsenko SA et al., Clin Genet 2004;66:128-36
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.