. Author manuscript; available in PMC: 2013 May 10.

Published in final edited form as: Am J Med Genet A. 2011 Jun 10;0(7):1588–1596. doi: 10.1002/ajmg.a.34046

Table V.

Syndromes Diagnosed through Laboratory Findings or Family History in 10 Infants with Isolated Clefts.

DIAGNOSTIC EVIDENCE	SYNDROME	CASES N
CGH	del 22q11.2 ^(1,2,3)	3
Mutation analysis	van der Woude ^(1,1) Kallmann ⁽¹⁾	2 1
Cytogenetics	46,X,del(X)(q1.3) ⁽¹⁾ 46,XY,add(15)(p11) ⁽¹⁾	1 1
Family history	Sib with Stickler syndrome ⁽³⁾ Twin sib with holoprosencephaly ⁽²⁾	1 1
TOTAL		10

CGH: Comparative genomic hybridization

CLP

CLO