title: Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.
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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.|Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA, 92690, USA.
authors: Morteza
authors: M
authors: Hemmat
authors: Ostrow School of Dentistry, University of Southern California, Los Angeles, CA, USA.
authors: Omid
authors: O
authors: Hemmat
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Arturo
authors: A
authors: Anguiano
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Fatih Z
authors: FZ
authors: Boyar
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Mohammed
authors: M
authors: El Naggar
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Jia-Chi
authors: JC
authors: Wang
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Borris T
authors: BT
authors: Wang
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Trilochan
authors: T
authors: Sahoo
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Renius
authors: R
authors: Owen
authors: Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors: Mary
authors: M
authors: Haddadin
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