Literature DB >> 1754566

Pallister-Killian syndrome diagnosed by chorionic villus sampling.

M Sharland1, L Hill, R Patel, M Patton.   

Abstract

The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.

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Year:  1991        PMID： 1754566     DOI： 10.1002/pd.1970110712

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  2 in total

1.  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

2.  Pallister-Killian syndrome.

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

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