Pallister-Killian syndrome (PKS) is a rare disorder presenting with developmental delay, numerous dysmorphic features, and skin pigmentation anomalies. It is caused by mosaic tetrasomy of the short arm of chromosome 12. In most instances, tetrasomy is due to a supernumerary isochromosome i(12)(p10). Although mitotic instability is a generally accepted behavior for supernumerary chromosomes, hexasomy 12p due to a gain of an isochromosome 12p, has been hardly ever reported. We report a 10 year follow-up on a girl with 2 copies of isochromosome consisting of the short arm of chromosome 12, who has craniofacial features seen in PKS, such as sparse hair with an unusual pattern, sparse eyebrows, lacrimal duct stenosis, submucous cleft palate, Pallister lip (a relatively long philtrum continuing into the vermillion border of the upper lip), narrow palate, and wide alveolar ridges. She also has other abnormalities, including unilateral renal dysgenesis, rectovaginal fistula, pre-axial polydactyly of the right hand, severe global developmental delay, and hypotonia as well as some features suggestive of mosaicism such as bilateral asymmetry, patchy areas of rough skin, and retinal mottling. Initial cytogenetic studies from peripheral blood showed a normal female karyotype. Further cytogenetic studies on a skin biopsy showed mosaicism with 2 copies of the supernumerary isochromosome 12p.
Mol Syndromol

中文翻译：

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十二指肠切开术造成的Pallister-Killian综合征患者的癫痫发作和心肌病。

Pallister-Killian综合征（PKS）是一种罕见的疾病，表现为发育延迟，许多畸形特征和皮肤色素沉着异常。它是由12号染色体短臂的镶嵌四体性引起的。在大多数情况下，四体性是由于多余的异染色体i（12）（p10）引起的。尽管有丝分裂的不稳定性是多染色体普遍接受的行为，但几乎没有报道过由于获得了同等染色体12p而导致的16s切开术。我们报告了一个女孩的10年随访，该女孩有2个拷贝的12号染色体短臂组成的同染色体，该女孩具有PKS中可见的颅面特征，例如稀疏的头发（具有不寻常的模式），稀疏的眉毛，泪道狭窄，粘膜下粘液left裂，Pallister唇（相对较长的long骨，一直延伸到上唇的朱红色边界），窄pa，和宽阔的牙槽脊。她还患有其他异常，包括单侧肾发育不全，直肠阴道瘘，右手前轴多指畸形，严重的整体发育延迟和肌张力低下，以及一些暗示镶嵌的特征，例如双侧不对称，皮肤粗糙的斑片区域和视网膜斑驳。最初来自外周血的细胞遗传学研究显示出正常的女性核型。皮肤活检的进一步细胞遗传学研究显示，镶嵌有2个拷贝的超常异染色体12p。和视网膜斑驳。最初来自外周血的细胞遗传学研究显示出正常的女性核型。皮肤活检的进一步细胞遗传学研究显示，马赛克具有2个拷贝的超常同染色体12p。和视网膜斑驳。最初来自外周血的细胞遗传学研究显示出正常的女性核型。皮肤活检的进一步细胞遗传学研究显示，镶嵌有2个拷贝的超常异染色体12p。
摩尔综合症