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Table 5 Indications for study in 32 individuals found to have the 16p11.2 microduplication

From: Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

46,XY,add(11)(p15)

Bilateral tremors

Cerebral palsy

Developmental delay (2)(2) (2)

Developmental delay, ADHD, fetal alcohol syndrome

Developmental delay, autism, mental retardation, tall, thin

Developmental delay, behavior disturbance

Developmental delay, dysmorphic features (2) (2)

Developmental delay, multiple congenital anomalies

Developmental delay, seizure disorder

Developmental delay, seizure disorder, autism

Developmental delay, seizure disorder, autistic disorder

Dysmorphic features

Dysmorphic features, multiple congenital anomalies

Encephalopathy (1) (1)

Failure to thrive

Mental retardation, facial and neck anomalies

Multiple congenital anomalies

Not specified

Seizure disorder

Tracheoesophageal fistula

Thyrotoxicosis

Tremors

  1. Numbers in parentheses indicate multiple cases referred for the same indication. Bold cases supplied further clinical information and are included in the phenotypic analysis. Italicized cases were excluded from phenotypic analysis due to another significant finding on aCGH.