Pallister-Killian syndrome （PKS） is a rare and sporadic genetic disorder due to tissue-limited mosaicism for supernumerary isochromosome 12p（i（12p））, which is usually absent or at low-level mosaicism in cultured...Pallister-Killian syndrome （PKS） is a rare and sporadic genetic disorder due to tissue-limited mosaicism for supernumerary isochromosome 12p（i（12p））, which is usually absent or at low-level mosaicism in cultured lymphocytes but present in fibroblasts. PKS was first described in adults by Pallister in 19771 and later in children by Killian and Teschler-Nicola in 1981.2 An accurate incidence is unknown. It is clinically characterized by profound mental retardation, seizures,hypotonia, supernumerary nipples, pigmentary dysplasia,diaphragmatic hernia, ＂coarse＂ face, including prominent forehead with sparse anterior scalp hair, hypertelorism,short nose with anteverted nares, flat nasal bridge, long philtrum, cleft palate and short neck. Here we report a patient with PKS, who is the first confirmed case with PKS in China's Mainland. Molecular analysis was performed to explore the formation mechanism of i（12p）.The results suggest that the maternal meiosis Ⅱ sister chromatid non-disjunction was likely the first step in the formation of i（12p）, followed by postzygotic mitotic centromeric misdivision.展开更多
应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床...应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。展开更多
基金This study was supported by the National Key Technology R＆D Program of China （No. 2006BAI05A08） and National Natural Science Foundation of China （No. 30571021）.
文摘Pallister-Killian syndrome （PKS） is a rare and sporadic genetic disorder due to tissue-limited mosaicism for supernumerary isochromosome 12p（i（12p））, which is usually absent or at low-level mosaicism in cultured lymphocytes but present in fibroblasts. PKS was first described in adults by Pallister in 19771 and later in children by Killian and Teschler-Nicola in 1981.2 An accurate incidence is unknown. It is clinically characterized by profound mental retardation, seizures,hypotonia, supernumerary nipples, pigmentary dysplasia,diaphragmatic hernia, ＂coarse＂ face, including prominent forehead with sparse anterior scalp hair, hypertelorism,short nose with anteverted nares, flat nasal bridge, long philtrum, cleft palate and short neck. Here we report a patient with PKS, who is the first confirmed case with PKS in China's Mainland. Molecular analysis was performed to explore the formation mechanism of i（12p）.The results suggest that the maternal meiosis Ⅱ sister chromatid non-disjunction was likely the first step in the formation of i（12p）, followed by postzygotic mitotic centromeric misdivision.
