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Abstract：
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.
摘要：
背景三体性是一种常见的染色体畸变,通常表现为类似的表型异常和发育迟缓。尽管定义为染色体异常，具有公认的症状，包括生长迟缓，据报道，9p三体和14q三体同时发生。案例介绍这里，我们描述了一名16岁的青春期女性,患有发育迟缓和轻度智力障碍.通过染色体微阵列分析（CMA）确认她同时具有部分三体性9p（p24.3-p23）和14q11.2微重复。据推测，患者体内的额外染色体可能是减数分裂过程中3：1分离后从亲本遗传的衍生14染色体。额外的9p段被证明是致病性的，而重复的14q11.2仍然不确定。结论需要进一步的研究来分配负责发育延迟和颅面畸形的基因，并指定9p染色体的剂量敏感基因。
