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  • Title: Partial monosomy for chromosome 22 in a girl with mental retardation.
    Author: Yong YP, Knight LA, Yong MH, Lam S, Ho LY.
    Journal: Singapore Med J; 1997 Feb; 38(2):85-6. PubMed ID: 9269370.
    Abstract:
    This report describes a 5-year 6-month-old Chinese girl with partial monosomy for the long arm of chromosome 22. The karyotype was 46,XX/46,XX,del (22) (q13.2). She presented with global developmental delay. Clinical features include seizures, failure-to-thrive, prominent ears, long philtrum and abnormal skin pigmentation on the face and limbs.
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