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

From: Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization

Segment deleted Clinical manifestations
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