22q11 deletion: a multisystem disorder requiring multidisciplinary input
| Autor: | Matthew Ellis, B J Leech, C Hill, K L Greenhalgh, I A Aligianis, G Bromilow, H Cox, Y Stait, P W Lunt |
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| Rok vydání: | 2003 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Adolescent Chromosomes Human Pair 22 Developmental Disabilities Genetic counseling Short Report medicine Humans Hypocalcaemia 22q11 microdeletion Child Retrospective Studies Patient Care Team Hypocalcemia business.industry Infant Newborn Cytogenetics Infant Retrospective cohort study Syndrome medicine.disease humanities body regions El Niño Child Preschool Pediatrics Perinatology and Child Health Case note Chromosome Deletion business 22q11 deletion |
| Zdroj: | Archives of Disease in Childhood. 88:523-524 |
| ISSN: | 1468-2044 0003-9888 |
| DOI: | 10.1136/adc.88.6.523 |
| Popis: | To draw up recommendations for the investigation and management of children with a microdeletion of chromosome 22q11.A retrospective review of case notes from patients with a chromosome 22q11 microdeletion identified by cytogenetics laboratories of the south and west of Britain over a four year period.A total of 210 cases were identified. Age at diagnosis was 0-1 years (34%), 1-4 (17%), 5-17 (35%), and 18 years or more (13%). School age children were less likely to be investigated than infants: echocardiography in school age 86% v in infancy 97%, serum calcium 66% v 89%, renal ultrasound scan 38% v 42%, lymphocyte count 26% v 68%, parental karyotype 78% v 88%. The yield of investigations remained high throughout all age groups with 42% of school age children shown to have hypocalcaemia and 25% abnormal findings on renal ultrasound.22q11 microdeletion is a multisystem disorder requiring a set of core investigations at diagnosis. We recommend an echocardiogram, renal ultrasound scan, lymphocyte count and function, serum calcium, and parental karyotype as a minimum. Genetic counselling and community paediatric input is helpful for most families. |
| Databáze: | OpenAIRE |
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