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The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

作者信息

Smigiel Robert, Pilch Jacek, Makowska Izabela, Busza Halina, Slezak Ryszard, Sasiadek Maria M

机构信息

Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, 50-368, Poland.

出版信息

Eur J Pediatr. 2008 Sep;167(9):1063-5. doi: 10.1007/s00431-007-0608-7. Epub 2007 Nov 14.

DOI:10.1007/s00431-007-0608-7
PMID:18000682
Abstract

The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes. Marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridisation (FISH). The karyotype was established as: mos47,XX,+12p/47,XX,+i(12p)/46,XX. The cytogenetic result of the extra mosaic 12p presented in lymphocytes suggested the diagnosis of trisomy 12p, although, in combination with clinical manifestations, the Pallister-Killian syndrome was considered and confirmed by the cytogenetic analysis of fibroblasts.

摘要

相似文献

1
The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.
Eur J Pediatr. 2008 Sep;167(9):1063-5. doi: 10.1007/s00431-007-0608-7. Epub 2007 Nov 14.
2
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.一名患有具有异常核型的帕利斯特-基利安综合征患者的临床、细胞遗传学和分子观察结果。
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3
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Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.帕利斯特-基利安综合征：产前绒毛膜绒毛、产后淋巴细胞及生长缓慢的表皮细胞的核型正常，但皮肤成纤维细胞存在12号染色体短臂的嵌合性四体。
J Med Genet. 1995 Jan;32(1):68-71. doi: 10.1136/jmg.32.1.68.
6
Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.帕利斯特-基利安综合征：产前绒毛膜绒毛和羊水中12号染色体短臂镶嵌四体的细胞遗传学和分子研究。产前诊断策略。
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Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.通过荧光原位杂交（FISH）确诊的两例帕利斯特-基利安综合征新病例报告：组织特异性嵌合体以及体外选择导致i(12p)丢失
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Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis.经羊膜穿刺术检测出的一例胎儿嵌合性12号染色体短臂四体及帕利斯特-基利安综合征妊娠中的胎盘胎儿细胞遗传学差异
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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.帕里斯特-基利安综合征的结构性脑异常：31 名儿童的神经影像学研究。
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Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS).病例报告：两名患有帕利斯特-基利安综合征（PKS）婴儿的早期新生儿脑电图
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Neuroimaging findings in Pallister-Killian syndrome.帕利斯特-基利安综合征的神经影像学表现。

本文引用的文献

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Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.一名患有具有异常核型的帕利斯特-基利安综合征患者的临床、细胞遗传学和分子观察结果。
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Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.12号染色体短臂等臂染色体嵌合体（帕利斯特嵌合非整倍体或帕利斯特-基利安综合征）：11例报告。
Am J Med Genet. 1987 Jun;27(2):257-74. doi: 10.1002/ajmg.1320270204.
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Tetrasomy 12p (Pallister-Killian syndrome).12号染色体短臂四体（帕利斯特-基利安综合征）。
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The pallister mosaic syndrome.
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