Literature DB >> 1789295

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

F Speleman1, J G Leroy, N Van Roy, A De Paepe, R Suijkerbuijk, H Brunner, L Looijenga, M R Verschraegen-Spae, E Orye.   

Abstract

The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

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Year:  1991        PMID： 1789295     DOI： 10.1002/ajmg.1320410321

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


  10 in total

Review 1.  Multicolor chromosome painting in diagnostic and research applications.

Authors:  Sabine Langer; Jürgen Kraus; Isabell Jentsch; Michael R Speicher
Journal:  Chromosome Res       Date:  2004       Impact factor: 5.239

2.  Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY.

Authors:  B Van der Auwera; N Van Roy; A De Paepe; J R Hawkins; I Liebaers; S Castedo; J Dumon; F Speleman
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

3.  Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.

Authors:  Francis M Filloux; John C Carey; Ian D Krantz; Jeffrey J Ekstrand; Meghan S Candee
Journal:  Eur J Med Genet       Date:  2012-02-01       Impact factor: 2.708

4.  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

5.  TeratoScore: Assessing the Differentiation Potential of Human Pluripotent Stem Cells by Quantitative Expression Analysis of Teratomas.

Authors:  Yishai Avior; Juan Carlos Biancotti; Nissim Benvenisty
Journal:  Stem Cell Reports       Date:  2015-06-09       Impact factor: 7.765

6.  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

7.  Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS).

Authors:  Carol M Stephens; Andreea M Pavel; Sean R Mathieson; Niamh McSweeney; Brian McNamara; Michael Moore; Geraldine B Boylan
Journal:  HRB Open Res       Date:  2022-02-18

Review 8.  Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Authors:  Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Monica Cristina Panzaru; Sorina Mihaela Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu
Journal:  Genes (Basel)       Date:  2021-05-26       Impact factor: 4.096

9.  Pallister-Killian syndrome.

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

10.  Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear.

Authors:  Elena Sukarova-Angelovska; Mirjana Kocova; Gordana Ilieva; Natalija Angelkova; Elena Kochova
Journal:  Mol Cytogenet       Date:  2016-05-03       Impact factor: 2.009
  10 in total

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