Literature DB >> 2934184

Mosaic tetrasomy 12p.

S Gilgenkrantz, P Droulle, M Schweitzer, B Foliguet, B Chadefaux, M Lombard, M Chery, M Prieur.   

Abstract

Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler-Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme assays, and we summarize the clinical and biological characteristics of all the cases reported so far under various names.

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Year:  1985        PMID： 2934184     DOI： 10.1111/j.1399-0004.1985.tb00416.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  7 in total

1.  Tetrasomy 12p (Pallister-Killian syndrome).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Molecular cytogenetic study of patients with Pallister-Killian syndrome.

Authors:  M Larramendy; M Heiskanen; M Wessman; A Ritvanen; P Peltomäki; K Simola; H Kääriäinen; H von Koskull; M Kähkönen; S Knuutila
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

Authors:  J Zhang; P Marynen; K Devriendt; J P Fryns; H Van den Berghe; J J Cassiman
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

4.  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.

Authors:  D Horn; F Majewski; B Hildebrandt; H Körner
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

5.  Pallister-Killian syndrome.

Authors:  Aarthi Srinivasan; Debra Wright
Journal:  Am J Case Rep       Date:  2014-05-07

6.  Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Authors:  Birsen Karaman; Hülya Kayserili; Asadollah Ghanbari; Zehra Oya Uyguner; Güven Toksoy; Umut Altunoglu; Seher Basaran
Journal:  Mol Cytogenet       Date:  2018-08-17       Impact factor: 2.009

7.  Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples.

Authors:  Ting Wang; Congmian Ren; Dan Chen; Jian Lu; Li Guo; Laiping Zheng; Yuan Liu; Hanbiao Chen
Journal:  Mol Cytogenet       Date:  2019-08-30       Impact factor: 2.009
  7 in total

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