Literature DB >> 8463911

Diaphragmatic hernia in tetrasomy 12p mosaicism.

J Bergoffen1, H Punnett, T J Campbell, A J Ross, E Ruchelli, E H Zackai.   

Abstract

Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.

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Year:  1993        PMID： 8463911     DOI： 10.1016/s0022-3476(05)83546-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  7 in total

1.  Pallister-Killian syndrome detected by fluorescence in situ hybridization.

Authors:  M G Bulter; V G Dev
Journal:  Am J Med Genet       Date:  1995-07-03

Review 2.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

3.  Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report.

Authors:  Hyun Young Ahn; Jong Chul Shin; Yeon Hee Kim; Hyun Sun Ko; In Yang Park; Sa Jin Kim; Jong Gu Rha; Soo Pyung Kim
Journal:  J Korean Med Sci       Date:  2005-10       Impact factor: 2.153

4.  Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.

Authors:  Danielle Veenma; Niels Beurskens; Hannie Douben; Bert Eussen; Petra Noomen; Lutgarde Govaerts; Els Grijseels; Maarten Lequin; Ronald de Krijger; Dick Tibboel; Annelies de Klein; Dian Van Opstal
Journal:  PLoS One       Date:  2010-12-21       Impact factor: 3.240

5.  Pallister-Killian syndrome in a two-year-old boy.

Authors:  Leigh Stone; Ramya Tripuraneni; Michelle Bain; Claudia Hernandez
Journal:  Clin Case Rep       Date:  2017-04-08

6.  Prenatal diagnosis of Pallister-Killian syndrome and literature review.

Authors:  Xiaoqing Wu; Xiaorui Xie; Linjuan Su; Na Lin; Bin Liang; Nan Guo; Qingquan Chen; Liangpu Xu; Hailong Huang
Journal:  J Cell Mol Med       Date:  2021-08-18       Impact factor: 5.310

7.  Pallister-Killian syndrome.

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

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