Guy Carrie, Wang Xianfu, Lu Xianglan, Lu Jin, Li Shibo
University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.
Mol Cytogenet. 2015 Dec 30;8:102. doi: 10.1186/s13039-015-0200-1. eCollection 2015.
Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.
We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.
This report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.
中枢神经系统特征很少被描述为与22q11.21染色体的小缺失或重复相关。
我们报告了两名患有22q11.21染色体改变和中枢神经系统异常的患者。所描述的特征包括小缺失患者的半叶型前脑无裂畸形和小重复患者的Chiari I畸形。
本报告将有助于明确22号染色体长臂间质性重复和缺失的临床意义。未来的研究领域将受益于对所述区域的进一步分析，纳入本病例报告中描述的表型发现，以进一步深入了解所述改变的致病性。
