Tetrasomy 21 pterβq22.1 and Down syndrom
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Daumer-Haas, Cornelia ;Schuffenhauer, Simone ;Walther, Joachim U. ;Schipper, Rob
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Article
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1994
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John Wiley and Sons
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English
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## Abstract Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33βmonthβold girl with tetrasomy 21 pter β q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, in