Svetlana A. Yatsenko

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome (2009)

Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.

We characterized at the molecular level the genomic rearrangements in 28 unrelated patients with 9q34.3 subtelomeric deletions. Four distinct categories were delineated: terminal deletions,...

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement (2008)

Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, ...

Abstract We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point....

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

Lu, Xinyan, Shaw, Chad A., Patel, Ankita, Li, Jiangzhen, Cooper, M. Lance, Wells, William R., ...

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M. B., Eifert, Anna, Friedman, Ellen M., ...

The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal...

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, ...

We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The...

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

Purandare, Smita M, Mendoza-Londono, Roberto, Yatsenko, Svetlana A, Napierala, Dobrawa, Scott, Daryl A, Sibai, Tarek, ...

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an...