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

BMC Psychiatry

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

First author (year)	Number of 3q29 deletion individuals in pedigree	Evaluation of proband	Evaluation of transmitting parent
Ballif (2008) [1]	3	No direct evaluation	No direct evaluation
Monfort (2008) [18]	2	Physical exam	Physical exam
Li (2009) [17]	2	Physical exam	Physical exam
Digilio (2009) [15]: Family #1	2	Physical exam, cognitive evaluation	Physical exam
Digilio (2009) [15]: Family #2	2	Physical exam	Physical exam
Clayton-Smith (2010) [13]	4	Proband: Physical exam Older brother: Physical exam, cognitive evaluation	Transmitting parent: Physical exam Transmitting grandparent: Physical exam
Petrin (2011) [19]	2	Physical exam	No evaluation^a
Kahn (2019) [16]	2	Physical exam	Physical exam

^aTransmitting parent reported in Petrin et al. [19] was mosaic for the 3q29 deletion

ISSN: 1471-244X