Literature DB >> 511139

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

L Tiepolo, P Maraschio, G Gimelli, C Cuoco, G F Gargani, C Romano.   

Abstract

Instability of the centromeric region of chromosome 1 and multibranched configurations formed by different numbers and combinations of arms of chromosomes 1, 9, and 16 were found in cultured lymphocytes of a 12-year-old male with combined IgA and IgE deficiency. No chromosome abnormalities were found in fibroblast cultures from the patient or in blood cultures from his parents. A possible effect on the frequency of the abnormalities of the almost continuous antibiotic treatment received by the patient was found both in vivo and in vitro, but no abnormalities were found in blood cultures from control subjects who received similar treatment. Interphase association of chromosomes 1, 9, and 16 and a high frequency of interchanges among the centromeric regions of these chromosomes due to the presence of a fragile site is assumed to be the cause of the abnormalities.

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Year:  1979        PMID: 511139     DOI: 10.1007/bf00287166

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


  11 in total

1.  Inherited constriction fragility of chromosome 2.

Authors:  M A Ferguson-Smith
Journal:  Ann Genet       Date:  1973-03

2.  Recurrent sinopulmonary infections, mental retardation, and combined IgA and IgE deficiency.

Authors:  A J Ammann; J Roth; R Hong
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

3.  Location of satellite and homogeneous DNA sequences on human chromosomes.

Authors:  K W Jones; G Corneo
Journal:  Nat New Biol       Date:  1971-10-27

4.  Distribution of mitomycin C induced breaks on human chromosomes.

Authors:  M Morad; J Jonasson; J Lindsten
Journal:  Hereditas       Date:  1973       Impact factor: 3.271

5.  [Selective endoreduplication of the long arm of the 2 chromosome in a woman and her daughter].

Authors:  J Lejeune; B Dutrillaux; J Lafourcade; R Berger; D Abonyi; M O Rethoré
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1968-01-03

6.  Selective endoreduplication or branched chromosome?

Authors:  B Noël; B Quack; J Mottet; Y Nantois; B Dutrillaux
Journal:  Exp Cell Res       Date:  1977-02       Impact factor: 3.905

7.  The location of four human satellite DNAs on human chromosomes.

Authors:  J R Gosden; A R Mitchell; R A Buckland; R P Clayton; H J Evans
Journal:  Exp Cell Res       Date:  1975-04       Impact factor: 3.905

8.  [Constitutional stereotyped gap in human chromosomes (author's transl)].

Authors:  B Quack; Y Nantois; J Mottet; B Noël
Journal:  J Genet Hum       Date:  1978-03

9.  The problem of partial endoreduplication.

Authors:  C Stahl-Maugé; H D Hager; T M Schroeder
Journal:  Hum Genet       Date:  1978-11-24       Impact factor: 4.132

10.  Centric fission of chromosome no. 4 in the mother of two patients with trisomy 4p.

Authors:  B Dallapiccola; P Mastroiacovo; E Gandini
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

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  31 in total

Review 1.  The molecular pathology of primary immunodeficiencies.

Authors:  Megan S Lim; Kojo S J Elenitoba-Johnson
Journal:  J Mol Diagn       Date:  2004-05       Impact factor: 5.568

2.  Does junk DNA regulate gene expression in humans?

Authors:  M A Hultén; M Stacey; S J Armstrong
Journal:  Clin Mol Pathol       Date:  1995-06

3.  Mitotic disturbance associated with mosaic aneuploidies.

Authors:  K Miller; W Müller; L Winkler; M R Hadam; J H Ehrich; S D Flatz
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

Review 4.  Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon?

Authors:  O A Haas
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

5.  Non-random chromosomal aberrations in a complex leukaemic clone of a Bloom's syndrome patient.

Authors:  F Shabtai; U H Lewinski; A Meroz; D Klar; M Djaldetti; I Halbrecht
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

6.  Characterization of Dnmt3b:thymine-DNA glycosylase interaction and stimulation of thymine glycosylase-mediated repair by DNA methyltransferase(s) and RNA.

Authors:  Michael J Boland; Judith K Christman
Journal:  J Mol Biol       Date:  2008-02-29       Impact factor: 5.469

7.  Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.

Authors:  Andrew Jefferson; Stefano Colella; Daniela Moralli; Natalie Wilson; Mohammed Yusuf; Giorgio Gimelli; Jiannis Ragoussis; Emanuela V Volpi
Journal:  PLoS One       Date:  2010-06-29       Impact factor: 3.240

8.  Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Authors:  Corry M R Weemaes; Maarten J D van Tol; Jun Wang; Monique M van Ostaijen-ten Dam; Marja C J A van Eggermond; Peter E Thijssen; Caner Aytekin; Nicola Brunetti-Pierri; Mirjam van der Burg; E Graham Davies; Alina Ferster; Dieter Furthner; Giorgio Gimelli; Andy Gennery; Barbara Kloeckener-Gruissem; Stephan Meyn; Cynthia Powell; Ismail Reisli; Catharina Schuetz; Ansgar Schulz; Andrea Shugar; Peter J van den Elsen; Silvère M van der Maarel
Journal:  Eur J Hum Genet       Date:  2013-03-13       Impact factor: 4.246

9.  Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations.

Authors:  M Kucerová; Z Polívková; S Dluholucký; M Kvasnicová
Journal:  Am J Hum Genet       Date:  1983-01       Impact factor: 11.025

Review 10.  The role of genetics in the establishment and maintenance of the epigenome.

Authors:  Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal:  Cell Mol Life Sci       Date:  2013-03-10       Impact factor: 9.261

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