Zhou Yu-Chun, Zhang Cui, Zhai Jin-Sheng, Li Tian-Fu, Wu Qiu-Yue, Li Wei-Wei, Li Na, Li Xiao-Jun, Huang Yu-Feng, Cui Ying-Xia, Xia Xin-Yi
Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Department of Healthcare, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Mol Med Rep. 2015 Jul;12(1):155-8. doi: 10.3892/mmr.2015.3436. Epub 2015 Mar 5.
Partial trisomy 9 is a common autosomal trisomy, which is characterized by non-specific psychomotor delay, mental retardation and moderately abnormal characteristic facial features. Generally, partial trisomy 9 leads to variable phenotypes depending on the size and position of the duplicated region. However, a precise genotype/phenotype map has not been determined. The present study reports the case of a 3-year-old female with certain typical features of trisomy 9p syndrome, who presented with a number of the distinctive symptoms, as well as sensorineural hearing loss, which has not previously been associated with this trisomy. Karyotype, M‑FISH and OaCGH analysis were performed on the patient and her parents. The final karyotype was determined to be 47, XX, +mar.ish der (9) (wcp9+). arr cgh 9pterq21.12 (DOCK8 → LOC138225)x3. Cytogenetic results showed a de novo extra der (9) with 69.5 Mb duplication. Although the molecular mechanism underlying the hearing loss is unclear, it was proposed that the 9q13 → 9q21 region may be critical for hearing.
9号染色体部分三体是一种常见的常染色体三体，其特征为非特异性精神运动发育迟缓、智力障碍以及中度异常的特征性面部容貌。一般来说，9号染色体部分三体根据重复区域的大小和位置导致不同的表型。然而，精确的基因型/表型图谱尚未确定。本研究报告了一例具有9p三体综合征某些典型特征的3岁女性病例，该患者出现了一些独特症状以及感音神经性听力损失，此前这种听力损失与该三体并无关联。对患者及其父母进行了核型分析、M-FISH和OaCGH分析。最终核型确定为47, XX, +mar.ish der (9) (wcp9+)。阵列比较基因组杂交结果显示9号染色体短臂末端至q21.12区域（DOCK8至LOC138225）重复3次。细胞遗传学结果显示一条新生的额外der (9) 染色体，有69.5 Mb的重复。虽然听力损失的分子机制尚不清楚，但有人提出9q13至9q21区域可能对听力至关重要。
