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Table 1 Prior reports of 3q29 deletion multiplex families: summary of evidence for “unaffected” status of transmitting parents

From: Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

First author (year)Number of 3q29 deletion individuals in pedigreeEvaluation of probandEvaluation of transmitting parent
Ballif (2008) [1]3No direct evaluationNo direct evaluation
Monfort (2008) [18]2Physical examPhysical exam
Li (2009) [17]2Physical examPhysical exam
Digilio (2009) [15]: Family #12Physical exam, cognitive evaluationPhysical exam
Digilio (2009) [15]: Family #22Physical examPhysical exam
Clayton-Smith (2010) [13]4Proband: Physical exam
Older brother: Physical exam, cognitive evaluation
Transmitting parent: Physical exam
Transmitting grandparent: Physical exam
Petrin (2011) [19]2Physical examNo evaluationa
Kahn (2019) [16]2Physical examPhysical exam
  1. aTransmitting parent reported in Petrin et al. [19] was mosaic for the 3q29 deletion