| Autor: |
Ryan, AK, Goodship, JA, Wilson, DI, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, FL, ClaytonSmith, J, Hatchwell, E, McKeown, C, Beemer, FA, Dallapiccola, B, Novelli, G, Hurst, JA, Ignatius, J, Green, AJ, Brueton, L, BrondumNielsen, K, Stewart, F, VanEssen, T, Patton, M, Paterson, J, Scambler, PJ |
| Jazyk: |
angličtina |
| Rok vydání: |
1997 |
| Předmět: |
|
| Zdroj: |
JOURNAL OF MEDICAL GENETICS, 34(10), 798-804. BMJ PUBLISHING GROUP |
| ISSN: |
0022-2593 |
| Popis: |
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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