Article
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.
American journal of medical genetics. Part A - 1 Aug 2026
Helle Katherine, Bengtsson Jesse D, Gandhi Mira, Grochowski Christopher M, Lun Ming Yin, Sudhir Neha, Jhangiani Shalini N, Sedlazeck Fritz J, Lalani Seema R, Hanchard Neil A, Carvalho Claudia M B
Abstract excerpt
The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in-house CGR detection pipeline pairing genome sequencing (GS) structural variant calls with read-depth data revealed a de novo complex...
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