Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes-Reference-Cited by-同舟云学术

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Published:2013 Issue: Volume:2013 Page:1-4
ISSN:2090-6544
Container-title:Case Reports in Genetics
language:en
Short-container-title:Case Reports in Genetics

Author:

Malvestiti Francesca¹^ORCID,Benedicenti Francesco²,De Toffol Simona¹^ORCID,Chinetti Sara¹^ORCID,Höller Adelheid³,Grimi Beatrice¹,Fichtel Gertrud⁴,Braghetto Monica⁵,Agrati Cristina¹,Bonaparte Eleonora¹,Maggi Federico¹,Simoni Giuseppe¹,Grati Francesca Romana¹

Affiliation:

1. Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, Italy

2. Servizio di Consulenza Genetica dell’Alto Adige, Dipartimento di Pediatria, Ospedale di Bolzano, 39100 Bolzano, Italy

3. Laboratorio di Citogenetica, Ospedale di Bolzano, 39100 Bolzano, Italy

4. Servizio di Anatomia e Istologia Patologica, Ospedale di Bolzano, 39100 Bolzano, Italy

5. Reparto di Ostetricia e Ginecologia, Ospedale di Bolzano, 39100 Bolzano, Italy

Abstract

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crig/2013/306098.pdf

Reference10 articles.

1. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review

2. A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region

3. The Wolf-Hirschhorn syndrome in adulthood: Evaluation of a 24-year-old man with a rec(4) chromosome

4. Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion

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