46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit. |
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| Authors: | J P Fryns A Kleczkowska P Decock G Massa H van den Berghe |
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| Affiliation: | Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium. |
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| 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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