case_images: PMC10551147_01
case_images: Photographs of the patient at the age of 3 years and 1 month (A) and 7 years and 9 months (B-D). Note: pectus excavatum, arachnodactyly, winged scapula, facial dysmorphisms including dolichocephaly, and mildly asymmetric face (left < right) are indicated. Conventional cytogenetics analysis: (E) (upper) G-banding karyotype showing the three-way translocation 46,XY,t(3;13;4)(p13,q12,p12); (bottom) partial ideograms showing the normal and derivative (der) chromosomes (chr) 3 (dark blue), 4 (light blue), and 13 (orange) as well as the fragments participating in the rearrangement.
case_images: fgene-14-1244983-g001.jpg
case_images: PMC10551147_01_fgene-14-1244983-g001.jpg
case_images: F1
case_images: The patient, a 7-year-old male (Figures 1A-D), is the fourth child of healthy non-consanguineous parents. Amniocentesis showed a male karyotype with a de novo and apparently balanced rearrangement involving three chromosomes [46,XY,t(3;13;4)(p13;q12;p12)dn] (Figure 1E). At 26/12 years of age (Figure 1A), MFS was suspected because of a height >97th centile, arachnodactyly, scoliosis, bilateral joint hyperlaxity, marked pectus excavatum, mild mitral valve prolapse, and aortic bulb ectasia with a 2.02 cm diameter. At the age of 79/12 years (Figures 1B-D), his height was 139.5 cm (>>97th centile), arm span 142 cm, weight 22 kg (10th centile), and OFC 50 cm.
case_images: Timeline of clinically relevant patient data and related diagnosis.
case_images: fgene-14-1244983-g002.jpg
case_images: PMC10551147_01_fgene-14-1244983-g002.jpg
case_images: F2
case_images: A timeline of clinically relevant patient data and related diagnosis is shown in Figure 2.