Table V.
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
CP