Maternal Inheritance of Deletion of Chromosome 18 q21.3

The 18q deletion syndrome is a rare chromosomal disorder. The phenotype is highly variable but is characterized by central nervous system abnormalities, head and neck dysmorphisms, cardiac anomalies, bone deformities, and cognitive and immune impairment. On chromosome structure analysis, the most common breakpoint of the long arm of the chromosome 18 is at q21.3, and most cases are paternally inherited. However, case reports regarding the specific 18q21.3 deletion are quite few. We report the clinical manifestations in a case of a male infant with 18q21.3 deletion, wherein his and his mother's cytogenetic findings showed a terminal deletion of the long arm of chromosome 18, whereas his father's karyotype was normal. Whole-blood chromosome analysis revealed significant information that narrowed down a possible diagnosis, and genetic information from the parents' karyotypes shed light on the inheritance pattern of the disease.

關鍵字

18q deletion syndrome ； paternal and maternal inheritance

並列摘要

第十八對染色體長臂缺失症後群是一種罕見的染色體異常疾病。其臨床表現是相當的多樣化；包括中樞神經系統、頭頸部、心臟、骨骼系統、認知以及免疫功能的異常等。從結構分析，第十八對染色體長臂的斷裂點最常在q21.3處，而且以散發型（sporadic）最多，遺傳學研究以父系遺傳為主。第十八對染色體長臂q21缺失症後群的臨床報告極少。在本篇文章中，我們除了描述一位患有第十八對染色體長臂q21缺失男嬰之臨床表徵外，我們也發現他的缺失是來自母親，而非父親。總之，當一個嬰兒表現出多樣的畸型，我們除了可利用其週邊血液進行染色體檢查之外，父母染色體的結果有時也能闡明疾病的遺傳模式。

並列關鍵字

第十八對染色體長臂缺失症候群；父系母系遺傳

國際替代計量

Maternal Inheritance of Deletion of Chromosome 18 q21.3

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