DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood

Ulster Medical Journal

Volumn 77, Issue 3, 2008, Pages 201-202

  Johnston, Philip C ^a   Donnelly, Deirdre K ^b   Morrison, Patrick J ^b   Hunter, Steven J ^a  

^a ROYAL VICTORIA HOSPITAL   (United Kingdom)

^b ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

Author keywords

Deletion 22q11.2; DiGeorge syndrome; Hypocalcaemia; Late presentation

Indexed keywords

CALCIUM; PARATHYROID HORMONE; VITAMIN D;

ADULT; ARTICLE; BIOCHEMISTRY; CALCIUM BLOOD LEVEL; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; DIGEORGE SYNDROME; DISEASE COURSE; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOCALCEMIA; HYPOTHYROIDISM; LEARNING DISORDER; MUSCLE SPASM; PALATOPHARYNGEAL INCOMPETENCE; PARESTHESIA; SPEECH THERAPY;

ADULT; AGE OF ONSET; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; HUMANS; HYPOCALCEMIA; SEQUENCE DELETION;

EID: 57149119102     PISSN: 00416193     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Driscoll DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 2001;3(1):14-8.
2. Scrambler PJ. The 22q11 deletion syndromes. Hum Med Genet 2000; 9(16):2421-6.
3. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34(10):798-804.
4. Jawad AF, McDonal-McGinn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (Di George syndrome/ velocardiofacial syndrome). J Pediat 2001;139(5): 715-23.
5. Kar PS, Ogoe B, Poole F, Meeking D. Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review. J Clin Pathol 2005;58(6):655-7.