Zhang Na, Huang Nan, Chen Yu'e, Chen Xinying, Zhuang Jianlong
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
The teaching and research office of clinical laboratory medicine, Quanzhou Medical College, Quanzhou, Fujian Province, 362000, China.
BMC Med Genomics. 2024 Dec 18;17(1):287. doi: 10.1186/s12920-024-02063-7.
The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.3 microdeletion syndrome in a Chinese population were examined, with the objective of enhancing understanding of the genotype-phenotype correlation associated with 10p15.3 microdeletions.
Two fetuses with chromosome 10p15.3 microdeletion were identified from a cohort of 5,258 cases undergoing amniocentesis. Karyotyping and chromosomal microarray analysis (CMA) was conducted to assess chromosomal abnormalities and detect copy number variations (CNVs) within the families, respectively.
In Family 1, the fetus exhibited a 556.2-Kb deletion in the 10p15.3 region, encompassing OMIM genes such as DIP2C and ZMYND11, and presented with increased nuchal translucency on prenatal ultrasound examination. Parental CMA analysis revealed that the 10p15.3 microdeletion was inherited from the father, who displayed mild language impairment. In Family 2, a comparable 10p15.3 microdeletion was identified in a fetus presenting with asymmetric butterfly vertebrae at T10 and T12, along with mild scoliosis of the spine. Family 1 elected to terminate the pregnancy, while Family 2 chose to continue. At a follow-up conducted at one year and eight months, the child demonstrated delays in both speech and motor development.
The present study is the first to report two cases of pure terminal chromosome 10p15.3 microdeletion syndrome in fetuses, offering valuable insights for the prenatal diagnosis of 10p15.3 microdeletion syndrome. Further, it is the first to describe mild clinical features, specifically limited to language impairment, in a patient with 10p15.3 microdeletion syndrome.
关于染色体10p15.3微缺失的文献报道极为有限。在本研究中，对两例中国人群中患有单纯末端10p15.3微缺失综合征的胎儿进行了检查，目的是增进对与10p15.3微缺失相关的基因型-表型相关性的理解。
从5258例接受羊膜穿刺术的队列中鉴定出两例染色体10p15.3微缺失的胎儿。分别进行了核型分析和染色体微阵列分析（CMA），以评估染色体异常并检测家族内的拷贝数变异（CNV）。
在家族1中，胎儿在10p15.3区域表现出556.2-Kb的缺失，包含如DIP2C和ZMYND11等OMIM基因，并且在产前超声检查中表现出颈项透明层增厚。父母的CMA分析显示，10p15.3微缺失是从父亲遗传而来，父亲表现出轻度语言障碍。在家族2中，在一名表现为T₁₀和T₁₂处不对称蝴蝶椎以及轻度脊柱侧弯的胎儿中鉴定出类似的10p15.3微缺失。家族1选择终止妊娠，而家族2选择继续妊娠。在1年零8个月时进行的随访中，该儿童表现出言语和运动发育迟缓。
本研究首次报告了两例胎儿单纯末端染色体10p15.3微缺失综合征，为10p15.3微缺失综合征的产前诊断提供了有价值的见解。此外，本研究首次描述了10p15.3微缺失综合征患者的轻度临床特征，具体限于语言障碍。
