Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report

Fig. 1

Diagram depicting the organization of genes in the 17q23 regions and the genomic arrangements involved within region. The structure of this region has been simplified for illustrative purposes. A: The 2 Mb duplication at 17q23.2q23.3 in the child described in this report. B: The 2.2 Mb 17q23.1q23.2 duplication in families described by Alvarado and colleagues [6]. This duplication was associated with clubfoot, mild short stature, and other skeletal abnormalities [6]. C: The 2.2 Mb 17q23.1q23.2 deletion in patients 1, 3, 4, 5, 6, and 7 described by Ballif and colleagues [5]. D: The 2.8 Mb 17q23.1q23.2 deletion in patient 2 described by Ballif and colleagues [5]. The 2.2 and 2.8 Mb 17q23.1q23.2 deletions were associated with developmental delay, microcephaly, growth retardation, heart defects, hand and foot anomalies, musculoskeletal abnormalities, behavioral abnormalities, hearing loss, and some distinctive facial features [5]

Back to article page