Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
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This study found that a specific deletion in the 16p11.2 region (involving the SH2B1 gene) may be linked to serious kidney and urinary tract problems as well as Hirschsprung disease (a bowel condition), which could help families with this deletion better understand and monitor their child's health.