Document Detail

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.
MedLine Citation:
PMID:  25478007     Owner:  NLM     Status:  Publisher    
Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient's developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient.
Morteza Hemmat; Xiaojing Yang; Patricia Chan; Robert A McGough; Leslie Ross; Loretta W Mahon; Arturo L Anguiano; Wang T Boris; Mohamed M Elnaggar; Jia-Chi J Wang; Charles M Strom; Fatih Z Boyar
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-8-29
Journal Detail:
Title:  Molecular cytogenetics     Volume:  7     ISSN:  1755-8166     ISO Abbreviation:  Mol Cytogenet     Publication Date:  2014  
Date Detail:
Created Date:  2014-12-5     Completed Date:  -     Revised Date:  2014-12-6    
Medline Journal Info:
Nlm Unique ID:  101317942     Medline TA:  Mol Cytogenet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  50     Citation Subset:  -    
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