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  • Title: [Monosomy 7qter (author's transl)].
    Author: Turleau C, de Grouchy J, Perignon F, Lenoir G.
    Journal: Ann Genet; 1979; 22(4):242-4. PubMed ID: 317790.
    Abstract:
    A de novo terminal del (7)(q35) was found in a 3-month-old girl referred because of a peculiar cry. This observation, with seven others from the literature permit the delineation of a syndrome characterized by severe microcephaly with a flattened occiput, a bulbous nose, a "double chin", and a broad thorax with widely spaced nipples, without internal organ malformations. Assays of Hageman factor (XII) revealed normal values. The proposita is heterozygous Jk (a + b +). The parents and the proposita are iny-1.
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