Author(s): Rolfs, Prof. Arndt, MD, Wessel, Karen, PhD, Kishore, Shivendra, PhD, Suleimann, Jehan, PhD, Khalaf, Tamam, El-Hattab, Ayman, MD
We report a 7.5-year-old boy with amongst others speech and language disorder, learning difficulties, incoordination and stereotyped hand movement. Read more!
Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. We report a 7.5-year-old boy with speech and language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, and behavior disturbances (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movement.
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