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Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region

✍ Scribed by Izumi, Kosuke; Conlin, Laura K.; Berrodin, Donna; Fincher, Christopher; Wilkens, Alisha; Haldeman-Englert, Chad; Saitta, Sulagna C.; Zackai, Elaine H.; Spinner, Nancy B.; Krantz, Ian D.


Book ID
118229443
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
727 KB
Volume
158A
Category
Article
ISSN
1552-4825

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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

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