Struthers J L, Cuthbert C D, Khalifa M M
Department of Pathology and Pediatrics, Queen's University and Kingston General Hospital, Ontario, Canada.
Am J Med Genet. 1999 May 21;84(2):111-5.
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. In this study, microsatellite DNA markers of chromosome 12p were used to identify the parental origin of the extra chromosome in an 8-year-old previously reported patient with PKS. The i(12p) was found to be maternally inherited. Reported cases of PKS where the parental origin of the i(12p) was determined were also reviewed. In all the cases, with one exception, the errors were found to be maternal in origin. Premeiotic mitotic error may be the most likely mechanism for i(12p) formation in this syndrome.
帕利斯特-基利安综合征（PKS）的特征是存在多种先天性异常，包括皮肤色素沉着改变、智力障碍以及组织局限性12号等臂染色体[i(12p)]的嵌合现象。等臂染色体的形成机制及其亲本来源尚不清楚。在本研究中，利用12号染色体短臂的微卫星DNA标记，对一名先前报道的8岁PKS患者额外染色体的亲本来源进行了鉴定。发现该i(12p)是母系遗传的。我们还回顾了已报道的确定了i(12p)亲本来源的PKS病例。在所有病例中，除了一例，发现错误均源于母方。减数分裂前的有丝分裂错误可能是该综合征中i(12p)形成的最可能机制。
