Table 1 Phenotype of the three patients with deletion of the 13q12.11 region

Size of deletion, Mb

2.9

2.1

2.9

Inheritance

De novo

De novo

De novo

Age at diagnosis

16 years

3 years and 2 months

3 years and 6 months

Sex

M

M

F

Birthweight, g

2500

2950

3150

Mental retardation

-

-

+

Speech delay

+

+

+

Hypotonia

-

+

+

Failure to thrive

-

-

+

Short stature

-

-

-

Brain anomalies

-

-

Dilatation of subarachnoid space and temporal section of both lateral ventricles

Cardiac anomalies

Murmur, abnormal aortic valve

-

-

Ophthalmic abnormalities

Divergent squint, hypermetropia

-

Divergent squint, high hypermetropic astigmatism

Oropharyngeal dyspasia

-

-

Incomplete cleft palate, short external acoustic canal

Scoliosis

+

-

-

Renal anomalies

-

-

Small kidney cysts

Clinodactyly

+

-

Fifth finger

Feet anomalies

Calcaneovalgus deformity of the left foot

-

-

Microcephaly

-

-

+