Literature DB >> 2807276

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.

J Zhang1, P Marynen, K Devriendt, J P Fryns, H Van den Berghe, J J Cassiman.   

Abstract

An iso 12p chromosome from a patient with Pallister-Killian syndrome was successfully transferred into a mouse background by microcell-mediated chromosome transfer. The presence of the i(12p) chromosome was confirmed by karyotyping and by Southern blotting using five 12p and seven 12q probes. The isochromosome nature of the marker chromosome was confirmed by co-hydridization of a 12p probe with a 12q and an 8q probe. This cell line should be a valuable tool for physical mapping of 12p-derived DNA fragments; at the same time, it confirms the identity of the extra chromosome in the Pallister-Killian syndrome as i(12p).

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Year:  1989        PMID： 2807276     DOI： 10.1007/bf00291381

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  19 in total

1.  Prenatal diagnosis of tetrasomy 47,XY,+i(12p) confirmed by in situ hybridization.

Authors:  L Shivashankar; E Whitney; G Colmorgen; T Young; G Munshi; D Wilmoth; K Byrne; G Reeves; D S Borgaonkar; S R Picciano
Journal:  Prenat Diagn       Date:  1988-02       Impact factor: 3.050

2.  Report of the committee on the genetic constitution of chromosomes 10, 11, and 12.

Authors:  H H Kazazian; C Junien
Journal:  Cytogenet Cell Genet       Date:  1987

3.  Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect.

Authors:  P Steinbach; H Rehder
Journal:  Clin Genet       Date:  1987-07       Impact factor: 4.438

4.  General protocol for microcell-mediated chromosome transfer.

Authors:  J A Sanford; E Stubblefield
Journal:  Somat Cell Mol Genet       Date:  1987-05

5.  Sequential staining with Hoechst 33258 and quinacrine mustard for the identification of human chromosomes in somatic cell hybrids.

Authors:  C R Carlin; K W Rao
Journal:  Exp Cell Res       Date:  1982-04       Impact factor: 3.905

6.  Mosaic tetrasomy 21 in a male child.

Authors:  M L Kwee; P G Barth; F Arwert; K Madan
Journal:  Clin Genet       Date:  1984-08       Impact factor: 4.438

7.  Mosaic tetrasomy 21 in severe mental handicap.

Authors:  J P Fryns; P Petit; L Vinken; J Geutjens; J Marien; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

8.  A cluster of alpha 2-macroglobulin-related genes (alpha 2 M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an alpha 2M pseudogene.

Authors:  K Devriendt; J Zhang; F van Leuven; H van den Berghe; J J Cassiman; P Marynen
Journal:  Gene       Date:  1989-09-30       Impact factor: 3.688

9.  The characterization of high-resolution G-banded chromosomes of man.

Authors:  J J Yunis; J R Sawyer; D W Ball
Journal:  Chromosoma       Date:  1978-08-14       Impact factor: 4.316

10.  Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.

Authors:  J F Reynolds; A Daniel; T E Kelly; S M Gollin; M J Stephan; J Carey; W N Adkins; M J Webb; F Char; J F Jimenez
Journal:  Am J Med Genet       Date:  1987-06
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  7 in total

1.  Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent.

Authors:  C J Van Der Burgt; G F Merkx; A H Janssen; J C Mulder; R F Suijkerbuijk; D F Smeets
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

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

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

3.  Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization.

Authors:  R F Suijkerbuijk; A Y van de Veen; J van Echten; C H Buys; B de Jong; J W Oosterhuis; D A Warburton; J J Cassiman; D Schonk; A Geurts van Kessel
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

4.  Efficient male and female germline transmission of a human chromosomal vector in mice.

Authors:  T Voet; J Vermeesch; A Carens; J Dürr; C Labaere; H Duhamel; G David; P Marynen
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

5.  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

6.  Human monochromosome hybrid cell panel characterized by FISH in the JCRB/HSRRB.

Authors:  H Tanabe; Y Nakagawa; D Minegishi; K Hashimoto; N Tanaka; M Oshimura; T Sofuni; H Mizusawa
Journal:  Chromosome Res       Date:  2000       Impact factor: 5.239

7.  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 in total

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