1 Patients 1–8 were reported by Rosenfeld et al. Genes surrounding the pink box were included in the common deleted region in those with cardiac abnormalities except for the patient reported by Bzduch et al. The main genes existing in this area were listed as modified University of California Santa Cruz (UCSC) data. Slanting lines indicate brain abnormalities. Black bars indicate no cardiac abnormalities. ( e) Bars indicate the deletion of individual patients. ( d) Axial and T1-weighted image, showing mild atrophy of the cerebral cortex. ( c) Sagittal and T1-weighted image, showing mild hypoplasia in the corpus callosum, brainstem and cerebellum. PA, pulmonary artery DAo, descending aorta. Arrow indicates the right brachiocephalic artery. ( b) The pulmonary artery inserts into the descending aorta and subclavian artery through the arterial duct. Triangles indicate the left common carotid artery. Arrows indicate the right brachiocephalic artery. ( a) Interruption of the aortic arch proximal to the left subclavian artery is shown. Thoracic contrast-enhanced computer tomography at 1 month of age ( a, b), cranial magnetic resonance imaging findings at 2 years of age ( c, d) and comparison of the deleted positions ( e). Array comparative genomic hybridization (aCGH) analysis was performed using SurePrint G3 Human CGH Microarray Kit, 4×180K (Agilent Technologies, Santa Clara, CA, USA) and a 13.3-Mb deletion at 6q21–q22.31 (nt. Parental samples were not made available for analysis. This test was approved by the bioethics committee for human gene analysis at Jichi Medical University. For genetic analysis, blood was obtained from the patient with written informed consent from the mother for testing. G-banding and fluorescence in situ hybridization (FISH) analysis of the 22q11.2 region were normal. Cranial magnetic resonance imaging revealed dysgenesis of the cerebral cortex and the corpus callosum, and mild hypoplasia of the brainstem and cerebellum ( Figure 1c,d). Additional presenting phenotypes included a prominent forehead, hypotelorism, short upturned nose, long philtrum, small mandible, high-arched palate, low-set ears, sparse hair and internal strabismus. He could sit and walk with assistance, and had an intellectual disability (development quotient of 20) without meaningful words. At 4 years of age, his height, weight and occipitofrontal circumference were 103.5 cm (+0.65 s.d.), 16.4 kg (+0.30 s.d.) and 48.2 cm (−1.25 s.d.), respectively. IAA repair and VSD patch closure under cardiopulmonary bypass was performed at 1 month of age. A systolic murmur was detected, and echocardiogram and thoracic contrast-enhanced computer tomography revealed IAA and a VSD ( Figure 1a,b). He failed to thrive, and his body weight was 3,560 g at 1 month of age. The patient was delivered at 38 weeks gestation with a birth weight of 3,075 g (+0.60 standard deviation (s.d.)), height of 48.5 cm (+0.20 s.d.) and head circumference of 33.4 cm (+0.30 s.d.). The patient was a 5-year-old boy and the first-born son of unrelated and healthy Japanese parents without notable family history.
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