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Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome)

✍ Scribed by Zakowski, Maureen F. ;Wright, Yvonne ;Ricci, Andrew


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
325 KB
Volume
42
Category
Article
ISSN
0148-7299

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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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Tissue-specific mosaic distribution of an additional isochromosome 12p is the characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases are reported in which the distribution of the additional i(12