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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Nonimmunologic clinical findings in patients with chromosome 22q11.2 deletion

Nonimmunologic clinical findings in patients with chromosome 22q11.2 deletion
Nonimmunologic clinical findings Percent
Palatal anomalies  69 to 100
Speech delay 79 to 90
Learning disabilities 45 to 90
Cardiac abnormalities 49 to 83
Developmental delay 75
Ophthalmologic abnormalities 7 to 70
Hypocalcemia 17 to 60
Psychiatric disorders 9 to 60
Skeletal abnormalities 17 to 45
Renal abnormalities 31 to 37
Short stature 20
Neurologic 8
Dental 2.5
Data from:
  1. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34:798.
  2. Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 1992; 42:141.
  3. Swillen A, Devriendt K, Eyskens B, et al. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997; 34:453.
  4. Gerdes M, Solot C, Wang PP, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 1999; 85:127.
  5. Moss EM, Batshaw ML, Solot CB, et al. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr 1999; 134:193.
  6. Yan W, Jacobsen LK, Krasnewich DM, et al. Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired." Am J Med Genet 1998; 81:41.
  7. Vantrappen G, Devriendt K, Swillen A, et al. Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns 1999; 10:3.
  8. Wang PP, Woodin MF, Kreps-Falk R, Moss EM. Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurol 2000; 42:422.
  9. McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999; 10:11.
  10. Motzkin B, Marion R, Goldberg R, et al. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr 1993; 123:406.
  11. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159:332.
Graphic 72911 Version 4.0

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