Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation

详细信息    查看全文

• 作者：Rooms ; Liesbeth ; Reyniers ; Edwin ; van Luijk ; Rob ; Scheers ; Stefan ; Wauters ; Jan ; Kooy ; R. Frank
• 刊名：Annales de Genetique
• 出版年：2004
• 出版时间：January - March, 2004
• 年：2004
• 卷：47
• 期：1
• 页码：53-59
• 全文大小：141 K

文摘

Cryptic unbalanced rearrangements involving chromosome ends are a significant cause of idiopathic mental retardation. The most frequently used technique to screen for these subtle rearrangements is Multiprobe fluorescence in situ hybridization (FISH). As this is a labor-intensive technique, we used microsatellite genotyping to detect possible subtelomeric rearrangements in a study population. Out of the 70 patients we screened, three chromosomal rearrangements were detected: a deletion of marker D2S2986, a deletion of marker D7S594 and a deletion of marker D19S424. However, none of these aberrations appeared to be disease causing.