20q11.22q13.11 染色体间重复：一例病例报告及文献复习。
Interstitial duplication of 20q11.22q13.11: A case report and review of literature.
机构信息
Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
出版信息
Mol Genet Genomic Med. 2021 Aug;9(8):e1755. doi: 10.1002/mgg3.1755. Epub 2021 Jul 16.
BACKGROUND
Reports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date.
METHODS
We performed karyotype and chromosomal microarray analysis on a peripheral blood sample for our patient and reviewed the genes in the region to provide genotype-phenotype correlation.
RESULTS
Clinical features of the patient include minor dysmorphic facial features, shorthands and feet, bilateral conductive hearing loss, global developmental delay, and behavioral issues with attention deficit hyperactivity disorder. Together with previously published cases of 20q11 duplication, we show that patients with overlapping duplications share a similar clinical phenotype of dysmorphic craniofacial features and developmental delay.
CONCLUSION
We report an 8-year-old girl with a 9.1 Mb interstitial duplication of chromosome 20q11.22q13.11. Our observations suggest that a novel duplication syndrome and documentation of similar cases will further help clarify the phenotype.
背景
目前仅有 9 例已发表的病例报告了染色体 20q11 间质性重复，因此此类报告较为罕见。
方法
我们对患者的外周血样本进行了核型分析和染色体微阵列分析，并对该区域的基因进行了综述，以提供基因型-表型相关性。
结果
患者的临床特征包括轻微的面部畸形、手脚短小、双侧传导性听力损失、全面发育迟缓以及伴有注意力缺陷多动障碍的行为问题。结合先前已发表的 20q11 重复病例，我们表明具有重叠重复的患者具有相似的临床表型，包括颅面畸形和发育迟缓。
结论
我们报告了一例 8 岁女孩，其染色体 20q11.22q13.11 存在 9.1 Mb 的间质性重复。我们的观察结果表明，一种新的重复综合征和类似病例的记录将有助于进一步阐明其表型。
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