7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 …

7q11.23 duplication syndrome (Dup7) is caused by a duplication (extra copy) of the ~26 genes that are deleted in Williams syndrome (WS). (Dup7 is sometimes referred to as “duplication of …

7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. …

2015年11月25日 · 7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, …

Dup7 (MIM 609757) is caused by the reciprocal duplication of the 26 genes that are deleted in WS (MIM 194050). As the use of chromosome microarray increases in the evaluation of patients …

To begin to delineate the psychological characteristics associated with classic 7q11.23 duplication syndrome (duplication of the classic Williams syndrome region; hereafter classic Dup7), we …

2015年8月6日 · Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders with broad phenotypic spectra caused by deletion and …

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable …

2022年5月22日 · Objective: 7q11.23 duplication syndrome (Dup7) is a genetic disorder with a variable phenotype associated with cognitive and behavioral characteristics including a high …

2018年1月1日 · 7q11.23 duplication syndrome (Dup7) is diagnosed based on the detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the same genetic region deleted in …