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  • Title: Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature.
    Author: Wakazono A, Masuno M, Yamaguchi S, Tsubouchi K, Kondo N, Orii T.
    Journal: Jpn J Hum Genet; 1992 Sep; 37(3):229-34. PubMed ID: 1472705.
    Abstract:
    A 12-month-old female infant with developmental delay, growth retardation, and dysmorphic features including dolichocephaly, telecanthus, ptosis, flat nasal bridge, anteverted nares, high-arched palate, carp-shaped mouth, micro-retrognathia, and low-set and posteriorly rotated ears was found to have an interstitial deletion of chromosome 11 involving bands q14-q22. Immunoblot analysis of her fibroblasts revealed a normal amount of mitochondrial acetoacetyl-coenzyme A thiolase, of which gene locus has been assigned to chromosome 11q22.3-q23.1. This result suggested that the region around the boundary of 11q22.3-q23.1 was intact in this patient.
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