UniparentalDisomy单亲二体症-创源生技.PDFVIP

第 009 期 Uniparental Disomy單親二體症 Uniparental Disomy單親二體症 【摘要】 Uniparental disomy (UPD) is a unique phenomenon when an individual receives both copies of a chromosome pair from one parent only and no copies from the other parent. Typically, a person should receive one copy from each parent. UPD is usually a sporadic event as a result of errors in sperm/egg formation or in early embryonic/fetal development. UPD is not associated with gains or losses of chromosomal segments or genes. However, UPD occurring at chromosomes carrying imprinting genes can lead to clinically pathogenic syndromes. Imprinting genes rely on bi-parental inheritance to ensure normal expression and function. A case example of UPD disorder is presented -- a 3-year-old female with developmental delays, social pervasive developmental delay and abnormal eye movement, who has complete uniparental disomy of chromosome #15 [UPD(15)] detected by using a microarray platform with single nucleotide polymorphism (SNP) probes. UPD(15) can be associated with Angelman syndrome, which was consistent with the clinical phenotype observed in this female child. Counseling points related to this case are discussed. The concept of UPD and known UPD disorders, as well as a review of Angelman syndrome are included. 此次專刊做單親二體症型的天使症候群的小兒案例分享及諮詢討論。同時說明何謂單親 二體症、相關遺傳疾病、發生原理及檢測方式。另外也介紹天使症候群罕見疾病。 【案例】 已經 3 歲的婷婷 （化名），在動作發展及語言發展 上一直落後同齡小朋友很多，在與人互 動 流方面也有廣泛性地發展遲緩 ，另外還有眼部異常。婷婷的父母非常擔心，帶著婷婷至小 兒神經科 求診，除了想要了解該怎麼協助婷婷外，也想知道為什麼婷婷會有這些狀況。 婷婷的嚴重程度讓兒科醫師 擔心是先天染色體或基因方面的異常。在和婷婷的父母討論 後，決定以 SNP晶片檢測的方式全面篩檢所有染色體，以找出致病原因。若知道致病原因， 除了給父母一個答案外，也可以更了解婷婷所要面臨的預後狀況、 如何對症下藥、或預防其 他併發症 。另外也能知道婷婷的病症會不會是家族遺傳 性的，家裡會不會再有一個孩子面臨