Literature DB >> 1692181

Prenatal diagnosis of Pallister-Killian syndrome.

S Soukup1, K Neidich.   

Abstract

We describe a case of Pallister-Killian syndrome ascertained by routine amniocentesis as i(12p). The i(12p) was also found in 4 tissues of the aborted fetus, where various degrees of mosaicism 46/47 + i(12p) were seen. Although autopsy showed no major malformations, some of the minor anomalies of Pallister-Killian syndrome were found.

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Year:  1990        PMID： 1692181     DOI： 10.1002/ajmg.1320350417

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  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

2.  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

3.  Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.

Authors:  Huili Xue; Liangpu Xu; Hailong Huang; Yan Wang; Gang An; Min Zhang; Yuan Lin
Journal:  Mol Cytogenet       Date:  2019-03-11       Impact factor: 2.009

4.  Pallister-Killian syndrome.

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

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