Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies

• Hlavní autoři: Füsun Düzcan (Autor), Hacer Ergin (Autor), Melike Aytan (Autor), Emre Tepeli (Autor), Özmert Özdemir (Autor), Seher Başaran (Autor)
• Médium: Kniha
• Vydáno: Medical Network, 2007-08-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described for 12p, 18p and 9p. To date, approximately 30 patients have been described with a tetrasomy 9p, majority of cases being mosaics. We present a new case of non-mosaic i(9p) that presented to us early in inf...