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  • Title: 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.
    Author: Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H.
    Journal: Ann Genet; 1992; 35(4):234-6. PubMed ID: 1296522.
    Abstract:
    In this report the authors describe an 8-year-old severely mentally retarded girl with facial features resembling the facial dysmorphism seen in patients with Alagille-Watson syndrome, severe growth retardation and a 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism in fibroblasts.
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