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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

Fig. 2

Eight cases with copy number variants (CNVs) involving 17p13.3 in our study. a The ideogram of chromosome 17 shows the region of interest as well as the three main genes (YWHAE, CRK, and PAFAH1B1). The orange bar represents the Miller–Dieker syndrome (MDS) critical region. b Sizes and locations of CNVs found in our patients. Red and blue bars represent copy number deletions and duplications, respectively. #: Case 3 also carried a 74.2 Mb mosaic duplication of approximately 3.5 on chromosome 17p13.2q25.3 and a 1.0 Mb deletion at 17q25.3. Case 8 also had a 4.0 Mb duplication at 17q25.3

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BMC Medical Genomics

ISSN: 1755-8794

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