Subtelomeric trisomy 21q: A new benign chromosomal variant

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• 作者：Maria Clara Bonaglia ; Susan Marelli ; Giulietta Gottardi ; Claudio Zucca ; Tiziano Pramparo ; Roberto Giorda ; Rita Grasso ; Renato Borgatti ; Orsetta Zuffardi
• 关键词：Benign subtelomeric variant ; 21q trisomy ; Translocation ; UBE3A
• 刊名：European Journal of Medical Genetics
• 出版年：2007
• 出版时间：January-February 2007
• 年：2007
• 卷：50
• 期：1
• 页码：54-59
• 全文大小：237 K

文摘

The diagnosis of a subtelomeric rearrangement has immediate impact on counseling, particularly in the case of familial rearrangements. However, the existence of subtelomeric imbalances with absent phenotypic effects may hamper genetic counseling, particularly when the rearrangement has not been previously described. We report on a new subtelomeric polymorphism, consisting of a familial subtelomeric rearrangement of chromosome 19 resulting in distal trisomy for 21q, detected in a child with Angelman Syndrome (AS) due to an UBE3A mutation.

This report shows that new, previously unknown, benign subtelomeric variants may complicate the correct clinical diagnosis.