Pallister-Killian syndrome (PKS) is characterized by multiple congenital anomalies including pigmentary skin changes, mental retardation, and the mosaic presence of a tissue-limited isochromosome 12p [i(12p)]. Mechanism(s) of formation and parental origin of the isochromosome are not well understood
โฆ LIBER โฆ
Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case
โ Scribed by Filippo Spreafico; Monica Terenziani; Elena Lualdi; Paola Scarfone; Paola Collini; Franca Fossati-Bellani; Eulalia Galea; Giovanna De Vecchi; Michele Sardella; Gabriella Sozzi; Paolo Radice; Daniela Perotti
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 84 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in โผ50% of individuals with CdLS. Numerous chro