Table 1 Clinical findings in our patient and previously reported patients with pure 11q interstitial deletion

Neurodevelopment

Intellectual disability

19/49

39%

-

Developmental delay

22/49

45%

Mild

Speech delay

11/49

22%

-

Hypotonia

11/49

22%

-

Seizures

8/49

16%

-

Strabismus

9/49

18%

-

Growth

Intrauterine growth retardation

4/50

8%

-

Postnatal growth retardation

18/49

37%

-

Malformations

Trigonocephaly

6/49

12%

-

Dolichocephaly

3/49

6%

-

Microcephaly

5/50

10%

-

Brain anomalies (hydrocephalus, hypoplastic/absent corpus callosum, cortical atrophy, white matter abnormalities)

3/50

6%

Unexplored

Kidney/urinary tract anomalies (left renal malrotation, horseshoe kidney, bilateral duplication of ureters, vesicoureteral reflux)

6/50

12%

-

Heart anomalies (mitral valve prolapse, tricuspid insufficiency, pulmonary stenosis, double outlet right ventricle, ventricular septal defect, atrial septal defect, right atrial and ventricular enlargement, patent ductus arteriosus)

11/50

22%

-

Cleft lip/palate

11/50

22%

-

Skeletal anomalies**

16/49

33%

-

Retinal dysgenesis/exudative vitreoretinopathy

5/49

10%

-

Iris/chorioretinal coloboma

4/50

8%

+

Myopia

3/49

6%

+

Dysmorphic features

Hypertelorism

12/49

24%

+

Epi/telecanthus

9/49

18%

+

High-arched palate

16/49

33%

-

Ear anomalies

18/49

37%

+

Micro/retrognathia

15/49

31%

-

Ptosis

12/49

24%

+