Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
β 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
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mild phenotype. Fluorescence in situ hybridization (
## Abstract A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21βpter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include lo