Velocardiofacial Syndrome Presenting as Hypocalcemia in Early Adolescence

Archives of Pediatrics & Adolescent Medicine

Volumn 151, Issue 7, 1997, Pages 745-747

  Sykes, Karen Salvesen ^a   Bachrach, Laura K ^a   Siegel Bartelt, Jacqueline ^b   Ipp, Moshe ^b   Kooh, Sang Whay ^b   Cytrynbaum, Cheryl ^b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DIGEORGE SYNDROME; FACE; FEMALE; GENETICS; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FACE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; HYPOCALCEMIA; HYPOPARATHYROIDISM;

EID: 0031180977     PISSN: 10724710     EISSN: 15383628     Source Type: Journal    
DOI: 10.1001/archpedi.1997.02170440107021     Document Type: Letter

References (11)

1. De la Chapelle A, Herva R, Kovisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet. 1981;57:253-256.
2. Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet. 1992;339:1138-1139.
3. Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1992;44:261-268.
4. Wilson Dl, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993;30:852-856.
5. Motzkin B, Marion R, Goldberg R, et al. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr. 1993;123:406-410.
6. Goldberg R, Motzkin B, Marion R, Scambler P, Shprintzen R. Velo-cardiofacial syndrome: a review of 120 patients. Am J Med Genet. 1993;45:313-319.
7. Demczuk S, Aurias A. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: a review. Ann Genet. 1995;38:59-76.
8. Mitnick RJ, Bello JA, Shprintzen RJ. Brain anomalies in velo-cardio-facial syndrome. Am J Med Genet. 1994;54:100-106.
9. Greig F, Paul E, DiMartino-Nardi J, Saenger P. Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q1 1 deletion. J Pediatr. 1996;128:563-567.
10. Seigel-Bartelt J, Kooh SW, Cytrynbaum C, Teshima I. Hypoparathyroidism in microdeletion 22ql 1.2. Presented at Third Joint Clinical Genetics Meeting of March of Dimes and The American College of Medical Genetics; March 11-14, 1996; San Antonio, Tex.
11. Scire G, Dallapiccola B, lannetti P, et al. Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am J Med Genet. 1994; 52:478-482.