Table 1 Clinical manifestations related to interstitial 11q deletions (molecularly defined cases)

11q22.3

mild mental retardation, developmental and speech delay, facial dysmorphism, ptosis, hypertelorism, low-set dysplastic ears, prominent forehead, hypoplastic corpus callosum

11q14.1 → q23.2

growth retardation, facial anomalies, exudative vitreoretinopathy (EVR), cleft palate, minor digital anomalies

11q13.5 → q14.2

low frontal hairline, flat profile, round face, full cheeks, periorbital fullness, hypertelorism, broad nasal bridge, down-turned corners of the mouth, developmental delay

11q14.3 → q22.3

choroid plexus cysts, echogenic intracardiac foci, mild polyhydramnios, a relatively enlarged right atrium with abnormal cardiac axis, small cerebellum, left talipes equinovarus (Prenatal ultrasound result)

11q13.4 → q14.3

microcephaly, ptosis, developmental delay

11q14.3 → q22.3

mild developmental delay, submucous cleft palate