Literature DB >> 1557060

[ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review].

P Kieback1, H Wendisch, P Lorenz, K Hinkel.   

Abstract

Instability of the heterochromatic centromeric regions of chromosomes 1 and 16 associated with immunodeficiency (decreased IgA, IgG and IgM) and facial dysmorphism were found in a 1 1/2 year old boy. 64.5% of his lymphocytes had chromosomal abnormalities: Stretching of the heterochromatic centromeric regions of the chromosomes 1 and 16, homologous and non-homologous associations and multi-branched configurations of chromosomes 1 and 16. Similar phenotypic and chromosomal abnormalities were described in 8 previously by published cases.

Entities:  

Mesh：

Year:  1992        PMID： 1557060

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd        ISSN： 0026-9298            Impact factor:   0.323


  7 in total

Review 1.  ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.

Authors:  D C Brown; E Grace; A T Sumner; A T Edmunds; P M Ellis
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

2.  DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.

Authors:  S Schuffenhauer; O Bartsch; M Stumm; T Buchholz; T Petropoulou; S Kraft; B Belohradsky; G K Hinkel; T Meitinger; R D Wegner
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

3.  Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Authors:  Delphine Sterlin; Guillaume Velasco; Despina Moshous; Fabien Touzot; Nizar Mahlaoui; Alain Fischer; Felipe Suarez; Claire Francastel; Capucine Picard
Journal:  J Clin Immunol       Date:  2016-02-06       Impact factor: 8.317

4.  Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells.

Authors:  David Gisselsson; Chunbo Shao; Cathy M Tuck-Muller; Suzana Sogorovic; Eva Pålsson; Dominique Smeets; Melanie Ehrlich
Journal:  Chromosoma       Date:  2005-04-27       Impact factor: 4.316

Review 5.  Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

Authors:  P Franceschini; S Martino; M Ciocchini; E Ciuti; M P Vardeu; A Guala; F Signorile; P Camerano; D Franceschini; P A Tovo
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

Review 6.  ICF syndrome: a new case and review of the literature.

Authors:  D F Smeets; U Moog; C M Weemaes; G Vaes-Peeters; G F Merkx; J P Niehof; G Hamers
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

7.  FISH analysis on spontaneously arising micronuclei in the ICF syndrome.

Authors:  M Stacey; M S Bennett; M Hulten
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318
  7 in total

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