Table II.

Evidence for and against a genetic basis for rhombencephalosynapsis

Evidence	Genetic Feature	Observation	Frequency	References
For	Neuroimaging	Stereotyped morphological cerebellar malformation	Required for diagnosis	Ishak (2012)
For	Chromosomal abnormalities	del 2q	Rare	Truwit (1991)
		der(10)t(2;10)(p25.3;q26.3)(Tel 2p+, Tel 10q-)	Rare	Demurger (2013), Lespinasse (2004)
		del 14q12-q21.2	Rare	Demurger (2013)
		del 16p11.2	Rare	Demurger (2013)
		del 16p13.11	Rare	Demurger (2013)
		Rearrangement of 22q13.3 and 10q26.3 (dup and del of 22q)†	Rare	Ramocki (2011)
		Tetrasomy 9p	Rare	di Vera (2008)
		Microduplication 1p	Rare	Pasquier (2009)
		Microduplication 7p	Rare	Pasquier (2009)
For	Postzygotic Mutation	Discordant monozygotic twins Asymmetric craniofacial features	Present	This report
Against	Recurrence	Affected siblings	Rare or absent	Pasquier (2009), Ramocki (2011)†
Against	Consanguinity	Affected siblings	None	Chemli (2007), de Mattos (2014), Gomy (2008), Pasquier (2009), Romanengo (1997), Toelle (2002)
Against	Vertical Transmission	Affected children	None	This report

^†The authors also reported partial RES in conjunction with HPE in two half-sisters with a heterozygous intragenic deletion of ZIC2. However, the presence of RES has been disputed by Guleria (2011) and Tully (2012).