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  • Title: Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
    Author: Binkert F, Stranzinger J, Schinzel A.
    Journal: Hum Hered; 1990; 40(2):81-4. PubMed ID: 2335369.
    Abstract:
    A 1-year-old boy with trisomy 18 (pter----q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on the phenotype, as seen in our proband.
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