Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome

Figure 1

Investigation of 15q21.1 microdeletion pathogenicity. (a) Pedigree of family carrying the heterozygous 15q21.1 microdeletion. Full and open circles and squares indicate MFS patients and normal females and males, respectively. Patient II-2 was diagnosed with MFS and atrial septal defect. The proband is marked by a black arrow. Patients I-2 and III-2 with diagonal lines represent dead. Patients II-2, II-3, and III-3 carried the heterozygous CNV. (b) The blue arrows show the proband presenting with aortic aneurysm (left) on a CTA of the thoracic aorta and scoliosis (right) of the thoracolumbar spine on a radiograph. (c) The pathogenetic 15q21.1 microdeletion confirmed by CMA. In the blue frame is chromosome 15, and the red bar shows the deletion area. The deletion cite of CNV is Chr 15: 45,087,159–52,465,173.

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