作者: Twila M. Yobb , Martin J. Somerville , Lionel Willatt , Helen V. Firth , Karen Harrison
DOI: 10.1086/429841
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摘要: 22q11.2 microduplications of a 3-Mb region surrounded by low-copy repeats should be, theoretically, as frequent the deletions this region; however, few have been reported. We show that phenotype these patients with is extremely diverse, ranging from normal to behavioral abnormalities multiple defects, only some which are reminiscent deletion syndrome. This diversity will make ascertainment difficult and necessitate rapid-screening method. demonstrate utility four different screening methods. Although all techniques give unique information, efficiency real-time polymerase chain reaction allowed discovery two in series 275 females who tested negative for fragile X syndrome, thus widening phenotypic diversity. Ascertainment X–negative cohort was twice screened deletion. also report first patient triplication patient's mother carries microduplication. strongly recommend other family members be tested, since we found several phenotypically parents were carriers chromosomal abnormality.