Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.
Mary A GudipatiElizabeth WatersCarol GreeneNidhi GoelNicole L HoppmanBeth A PitelMatthew R WebleyYing S ZouPublished in: Molecular cytogenetics (2019)
To our knowledge, our case is the first case with familial constitutional chromoanagenesis involving chromosome 1q24-q42. This report emphasizes the value of performing microarray and mate pair next-generation sequencing analysis for individuals with germline abnormal or complex chromosome rearrangements.