Introduction
Chromothripsis has been described in both human cancers and in congenital disorders and has largely expanded our understanding on the genesis of complex genomic rearrangements.  Several mechanisms, involving abortive apoptosis, telomere dysfunction, mitotic errors, micronuclei formation and premature chromosome condensation, have been proposed. These mechanisms have been identified in the field of human reproduction as causal factors for reproductive failures and chromosomal abnormalities. Here we report a male fetus with a complex series of interspersed deletions of chromosomal segments on chromosome 13.  

Case Presentation
A 22-year-old woman was referred for prenatal diagnosis due to abnormal maternal serum screening and an abnormal fetal ultrasound with multiple congenital anomalies including holoprosencephaly, bilateral cleft lip, bilateral club feet, severe IUGR, and possible cardiac defect.

Diagnostic Workup
The chromosome analysis showed 46,XY,del(13)(q22.1).  SNP microarray analysis showed seven interspersed deletions in the long arm of chromosome 13, from 13q14.2 to 13qter. The total deleted segments are 46.38 Mb within a 64 MB genomic region and includes numerous OMIM genes.

 

Discussion
The clinical phenotype of 13q deletions vary with size of the deletion and gene content. Some of the most common clinical features include moderate–severe intellectual disability, growth delay, congenital anomalies and dysmorphic features. Chromothripsis could occur in human germlines and during early embryonic development, therefore, these deletions likely arose by a complex multi-break rearrangement mediated by chromothripsis.  Our report demonstrates that microarray analysis is helpful in delineating the mechanism and complexity of chromosome rearrangements, even in cases in which abnormalities have been detected by chromosome analysis.