Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2022, Vol. 18 ›› Issue (03): 337 -342. doi: 10.3877/cma.j.issn.1673-5250.2022.03.013

Original Article

Rare chromosome 13q22.1-13q31.3 deletion sydrome: a case report and literature review

Jianlong Zhuang, Wanyu Fu, Wenli Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Xiaoxia Wu()   

  1. Prenatal Diagnosis Center, Quanzhou Women′s and Children′s Hospital, Quanzhou 362000, Fujian Province, China
  • Received:2021-11-18 Revised:2022-05-01 Published:2022-06-01
  • Corresponding author: Xiaoxia Wu
  • Supported by:
    Science and Technology Planning Foundation for Health in Fujian Province(2020QNB045)
Objective

To investigate clinical features, karyotype analysis and detection results of chromosomal microarray (CMA) technology of a baby boy with chromosome 13q22.1-13q31.3 deletion sydrome.

Methods

On February 12, 2019, a baby boy who was admitted to the Department of Rehabilitation of Quanzhou Women′s and Children′s Hospital was enrolled in this study at his age of 5 months. The results of chromosome karyotype and single nucleotide polymorphism array (SNP-array) detection were retrospectively analyzed. With " 13q" or " 13q22" or " 13q31" and " deletion" as keywords in Chinese and English, literature related to 13q22.1-13q31.3 deletion was retrieved in Wanfang Data Knowledge Service Platform, CNKI, and PubMed Database. Search period was set from June 2002 to June 2022. The procedure followed in this study met the standards formulated by the Ethics Review Committee of Quanzhou Women′s and Children′s Hospital and has been approved by it (Approval No.2020-31).

Results

①The chromosome karyotype result of the baby boy showed that his karyotype was 46, XY, del (13) (q32). Detection result of SNP-array demonstrated a 19.5 Mb deletion in 13q22.1-13q31 region of chromosome 13, Among chromosome deletion, 30 genes in Online Mendelian Inheritance in Man (OMIM) were included, such as MIR17HG (609415), POU4F1(601632) and EDNRB (131244). Reference relevant databases, combination of clinical phenotype and deletion of the baby boy were interpreted as pathogenic copy number variants (CNV). ② Literature review results elicited a total of 4 pieces of English literature with 13q22.1-13q31.3 deletion were retrieved according to the retrieval strategy set in this study. Their deletion regions were 13q21.1-13q31.1 (boy, 13 months old), 13q21.32-13q31.1 (boy, 20 years old), 13q22-13q31 (boy, 9 years old) and 13q22.2-13q31.1 (girl, 1 year old) deletion.

Conclusions

Chromosome deletion in 13q22.1-13q31.3 of the baby boy is reported for the first time in China, which is a rare chromosome deletion. The relationship between 13q proximal deletion and phenotype is further clarified. CMA technology would be helpful in revealing location and size of chromosome deletions.

图1 本例男婴(5个月龄)染色体核型分析结果(箭头所示为13号染色体长臂缺失所在位置)
图2 本例男婴(5个月龄)SNP-array检测结果(箭头所示为13号染色体长臂部分缺失所在位置,提示在13号染色体13q22.1-13q31.3区域存在19.5 Mb的部分缺失)注:SNP-array为单核苷酸多态性微阵列
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