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  • Title: Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.
    Author: García-Cruz D, Rivera H, Barajas LO, Jiménez-Sáinz M, Nazará Z, Sánchez-Corona J, Durón-Huerta H, García-Ochoa C, Cantú JM.
    Journal: Ann Genet; 1985; 28(4):231-4. PubMed ID: 3879435.
    Abstract:
    A 16 year-old boy with monosomy 20p was studied. The clinical and radiological data compared with those from the three previously reported cases, permit the delineation of a distinct syndrome of low birthweight, flat face, low nasal bridge, long philtrum, short neck, small overfolded ears, chest deformity, kyphoscoliosis, congenital heart defect, hypoplastic or absent ribs and rachischisis (butterfly-shaped vertebral bodies). The critical chromosome segment causing this syndrome is tentatively defined as 20p13.
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