(a) The duplication of a small portion of chromosome 17 that causes Charcot-Marie-Tooth syndrome is evident from the appearance of three, rather than two, red signals in this nucleus. The green ...

For instance, deletions that span a centromere result in an acentric chromosome that will most likely be lost during cell division. As with duplications, deletions can affect gene dosage and thus ...

The Expanded NF1-Rasopathy panel by NGS involves the simultaneous sequencing of 17 genes: NF1, SPRED1 ... and frameshifts caused by deletion/ duplication up to 112bp. Deletion/duplication analysis for ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

Shashidar Pai, MD, Director, Genetics and Developmental Pediatrics Medical University of South Carolina, Children's Hospital, Charleston, South Carolina Author's email: [email protected] Disclosure ...