Genotype-phenotype Analysis of Recombinant Chromosome 4 Syndrome: an Array-CGH Study and Literature Review

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2013 May 4

PMID 23639048

Citations 6

Authors

Morteza Hemmat

Omid Hemmat

Arturo Anguiano

Fatih Z Boyar

Mohammed El Naggar

Jia-Chi Wang

Borris T Wang

Trilochan Sahoo

Renius Owen

Mary Haddadin

Affiliations

Soon will be listed here.

Abstract

Background: Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported.

Result: We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome. The patient was a one-year old boy with consistent clinical features. Conventional cytogenetics and FISH documented a recombinant chromosome 4, derived from a paternal pericentric inversion, leading to partial trisomy 4p and partial monosomy of 4q. Array-CGH, performed to further characterize the rearranged chromosome 4 and delineate the breakpoints, documented a small (4.36 Mb) 4q35.1 terminal deletion and a large (23.81 Mb) 4p15.1 terminal duplication. Genotype-phenotype analysis of 10 previously reported cases and the present case indicated relatively consistent clinical features and breakpoints. This consistency was more evident in our case and another characterized by array-CGH, where both showed the common breakpoints of p15.1 and q35.1. A genotype-phenotype correlation study between rec(4), dup(4p), and del(4q) syndromes revealed that urogenital and cardiac defects are probably due to the deletion of 4q whereas the other clinical features are likely due to 4p duplication.

Conclusion: Our findings support that the clinical features of patients with rec(4) are relatively consistent and specific to the regions of duplication or deletion. Recombinant chromosome 4 syndrome thus appears to be a discrete entity that can be suspected on the basis of clinical features or specific deleted and duplicated chromosomal regions.

Citing Articles

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An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.

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Recombinant chromosome 4 in two fetuses - case report and literature review.

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Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features.

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