PMC5781338_01
Phenotypic appearance of the affected individual in our study. a X-ray shows spinal meningocele in the cervicothoracic region in our patient at birth. b This X-ray was taken in 2011 when the proband came to our institution for spina bifida repair. It shows that besides myelomeningocele, the proband also had elongated and descended cerebellum. These results led to her diagnosis of Chiari malformation. c Patient's X-ray from 2016, revealing an elevated right scapula. d After partial scapulectomy and collum costatectomy, the shoulder function was partially restored. e Human 660w-Quad SNP-array results. A 666 Kb microdeletion (chr3:194,532,035-195,198,585; Hg19) located in the 3q29 region. XXYLT1 (C3orf21) is affected by this deletion
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PMC5781338_01_13039_2018_358_Fig1_HTML.jpg
Fig1
Nonetheless, she was observed having spinal meningocele in the cervicothoracic region (Fig. 1a). MRI results showed an extended cerebellum, and brain stem extending into the foramen magnum (Fig. 1b). In 2016, the patient came again to our institution due to left acromioclavicular dislocation and significantly elevated right scapula (Fig. 1c). The procedure was smooth, and the patient partially regained shoulder function (Fig. 1d). This deletion might lead to haploinsufficiency of XXYLT1 and ACAP2, due to function loss of the other allele (Fig. 1e).