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  • Title: Terminal deletion 6p23: a case report.
    Author: Kormann-Bortolotto MH, Farah LM, Soares D, Corbani M, Müller R, Adell AC.
    Journal: Am J Med Genet; 1990 Dec; 37(4):475-7. PubMed ID: 2260591.
    Abstract:
    We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.
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