Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

BMC Medical Genetics

Table 2 Intrafamilial comparison of the clinical severity of the phenotype

Couple	Congenital heart defect		Ca-P abnormalities		Speech delay		Developmental delay
	Affected subject	Parent	Affected subject	Parent	Affected subject	Parent	Affected subject	Parent
1	yes	no	yes	yes	no	yes	yes	no
2	yes	no	yes	no	yes	no	no	no
3	yes	no	no	no	no	yes	yes	no
°4	no	no	yes	no	no	yes	yes	no
°5 ^δ	yes	no	yes	no	yes	yes	yes	no
6	yes	no	no	no	yes	yes	yes	yes
7	yes	no	yes	no	yes	no	yes	no
8	no	no	no	no	yes	no	yes	no
9	no	no	no	no	yes	no	yes	no
10	no	yes	yes	yes	yes	yes	no	no
°11	yes	no	yes	no	no	no	yes	no
°12 ^δ	yes	no	no	no	yes	no	yes	no
13	no	no	no	no	yes	no	no	yes
°14	no	no	no	no	yes	no	yes	yes
°15 ^δ	yes	no	no	no	yes	no	no	yes
16	no	no	no	no	yes	no	yes	no
17	yes	no	no	no	yes	yes	yes	yes
18	yes	no	no	no	yes	yes	yes	yes
19	yes	no	no	no	yes	yes	no	yes
20	yes	yes	no	yes	yes	yes	yes	no
21	yes	no	yes	no	yes	yes	yes	yes
22	yes	no	yes	no	yes	yes	yes	yes
23	yes	no	yes	no	yes	no	yes	yes
°24	no	no	no	no	yes	no	yes	no
°25	no	no	no	no	yes	no	yes	no
°26 ^δ	yes	no	yes	no	yes	no	yes	no
27	yes	no	yes	no	no	yes	no	yes
28	no	no	no	no	yes	yes	yes	yes
29	no	no	no	no	yes	no	yes	no
°30 ^δ	yes	no	no	no	yes	no	yes	no
°31	no	no	no	no	no	no	no	no
32	yes	no	no	no	no	no	no	no

°Couple of siblings; ^δFirst individual to seek medical attention for genetic evaluation.

ISSN: 1471-2350