Fan Jing, Zhou Jing, Lin Diaozhu, Guo Ying, Li Shaohua, Zhang Shaoling, Liang Liyang, Yan Li
Department of Endocrinology and Metabolism, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
Department of Pediatry, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
J Pediatr Endocrinol Metab. 2020 Mar 26;33(3):431-436. doi: 10.1515/jpem-2019-0246.
Background Trisomy is a common chromosomal aberration, which usually presents with similar phenotypic abnormalities and developmental delay. Although defined as chromosome abnormalities with recognized symptoms including growth retardation, trisomy 9p and trisomy 14q have been rarely reported to occur at the same time. Case presentation Here, we describe a 16-year-old adolescent female affected by developmental delay and mild intellectual disability. She was confirmed to have both partial trisomy 9p (p24.3-p23) and 14q11.2 microduplication by chromosome microarray analysis (CMA). It is speculated that the extra chromosome in the patient may be a derivative 14 chromosome inherited from the parent after 3:1 disjunction during meiosis. The extra 9p segment proves to be pathogenic while the duplicated 14q11.2 remains indefinite. Conclusions Further studies are needed to assign the genes responsible for the developmental delay and craniofacial dysmorphisms and appoint dosage-sensitive genes of chromosome 9p.
三体性是一种常见的染色体畸变，通常表现出相似的表型异常和发育迟缓。虽然9号染色体短臂三体（9p）和14号染色体长臂三体（14q）被定义为具有包括生长迟缓等公认症状的染色体异常，但很少有同时发生的报道。病例报告：在此，我们描述了一名16岁的青春期女性，患有发育迟缓及轻度智力障碍。通过染色体微阵列分析（CMA）确诊其患有部分9号染色体短臂三体（p24.3 - p23）和14号染色体长臂11.2微重复。推测患者额外的染色体可能是减数分裂过程中3:1分离后从父母遗传而来的衍生14号染色体。额外的9号染色体短臂片段被证明具有致病性，而重复的14号染色体长臂11.2片段的致病性尚不确定。结论：需要进一步研究来确定导致发育迟缓和颅面畸形的基因，并确定9号染色体短臂的剂量敏感基因。
