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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity

Fig. 1

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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