Skip to main content
. 2010 Aug 13;87(2):209–218. doi: 10.1016/j.ajhg.2010.07.002

Table 1.

Phenotypes of Patients with Supernumerary der(22)t(8;22)

Case t(8;22) Inheritance Sex Age (Yrs) Birth Weight Growth Ears Extremities Genitalia Development/ IQ Reference
1a maternal M 18 normal normal prominent clinodactyly normal 50 Sanchez et al.31
2a maternal F 29 normal normal prominent, low set clinodactyly normal 59 Sanchez et al.31
3b maternal M 12 - normal - clinodactyly ectopic testes 50 Rethore et al.32
4b maternal M 10 - normal - clinodactyly - 60 Rethore et al.32
5 paternal M 16 - normal - clinodactyly ectopic testes 70 Rethore et al.32
6 maternal M - - - - - - - Rethore et al.32
7 maternal M 5 - - preauricular pit, low set - cryptorchidism no speech at 5 yrs of age Rethore et al.32
8 paternal M 5.5 normal weight, length < 3% preauricular pit, atretic ear clinodactyly normal moderate speech and language delayc Mark et al.26
9 - M 43 - - large - cryptorchidism 50–60 Helbig et al.27
10 paternal F 10 - - preauricular pit - - educational assistance via math resource room Gotter et al.23
11 maternal M 3.5 normal normal large clinodactyly - 63d This study

“-” indicates unknown data.

a,b

Siblings.

c

No formal testing.

d

Mullen Scales of Early Learning.