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  • Title: [Clinical picture of partial monosomy of chromosome 11 q].
    Author: Dörr U.
    Journal: Monatsschr Kinderheilkd; 1986 Nov; 134(11):808-11. PubMed ID: 3807920.
    Abstract:
    A ten months old male infant was found to have a de-novo-deletion of the long arm of chromosome 11 (q23----qter). With regard to previous reports the combination of the following signs seems to be pathognomonic for partial monosomy of the long arm of chromosome 11: trigonocephaly, abnormal palpebral fissure, epicanthus, broad and depressed nasal bridge, carp shaped mouth, low-set malformed ears and statomotoric retardation. Cerebral atrophy, BNS-seizures, hypsarrhythmia and persistent leukocytopenia have not yet been described. Three distinct types of severity and probably correlated prognosis seem to exist.
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